chr4:1801844:C>G Detail (hg38) (FGFR3)

Information

Genome

Assembly Position
hg19 chr4:1,803,571-1,803,571 View the variant detail on this assembly version.
hg38 chr4:1,801,844-1,801,844

HGVS

Type Transcript Protein
RefSeq NM_001163213.1:c.749C>G NP_001156685.1:p.Pro250Arg
NM_022965.3:c.737C>G NP_075254.1:p.Pro246Arg
NM_000142.4:c.749C>G NP_000133.1:p.Pro250Arg
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 134934 OMIM
HGNC 3690 HGNC
Ensembl ENSG00000068078 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv252579332 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2022-12-28 criteria provided, multiple submitters, no conflicts Muenke Syndrome inherited de novo germline maternal paternal unknown Detail
Pathogenic 2009-02-01 no assertion criteria provided Saethre-Chotzen syndrome germline Detail
not provided 2013-09-19 no assertion provided not specified germline Detail
Pathogenic 2015-04-30 criteria provided, single submitter Craniosynostosis syndrome germline Detail
Pathogenic 2023-12-06 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-03-21 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2017-01-01 criteria provided, single submitter Crouzon syndrome unknown Detail
Pathogenic 2019-05-28 criteria provided, single submitter hypochondroplasia unknown Detail
Pathogenic 2024-03-17 criteria provided, multiple submitters, no conflicts achondroplasia germline maternal Detail
Pathogenic 2021-07-10 criteria provided, single submitter germline Detail
Pathogenic criteria provided, single submitter FGFR3-related chondrodysplasia inherited Detail
Pathogenic 2021-10-21 criteria provided, single submitter colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia type 1,Germ cell tumor of testis,Levy-Hollister syndrome,achondroplasia,cervical cancer,Muenke Syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,hypochondroplasia unknown Detail
Pathogenic 2021-10-21 criteria provided, single submitter colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia type 1,Germ cell tumor of testis,Levy-Hollister syndrome,achondroplasia,cervical cancer,Muenke Syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,hypochondroplasia unknown Detail
Pathogenic 2021-10-21 criteria provided, single submitter colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia type 1,Germ cell tumor of testis,Levy-Hollister syndrome,achondroplasia,cervical cancer,Muenke Syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,hypochondroplasia unknown Detail
Pathogenic 2021-10-21 criteria provided, single submitter colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia type 1,Germ cell tumor of testis,Levy-Hollister syndrome,achondroplasia,cervical cancer,Muenke Syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,hypochondroplasia unknown Detail
Pathogenic 2021-10-21 criteria provided, single submitter colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia type 1,Germ cell tumor of testis,Levy-Hollister syndrome,achondroplasia,cervical cancer,Muenke Syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,hypochondroplasia unknown Detail
Pathogenic 2021-10-21 criteria provided, single submitter colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia type 1,Germ cell tumor of testis,Levy-Hollister syndrome,achondroplasia,cervical cancer,Muenke Syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,hypochondroplasia unknown Detail
Pathogenic 2021-10-21 criteria provided, single submitter colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia type 1,Germ cell tumor of testis,Levy-Hollister syndrome,achondroplasia,cervical cancer,Muenke Syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,hypochondroplasia unknown Detail
Pathogenic 2021-10-21 criteria provided, single submitter colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia type 1,Germ cell tumor of testis,Levy-Hollister syndrome,achondroplasia,cervical cancer,Muenke Syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,hypochondroplasia unknown Detail
Pathogenic 2021-10-21 criteria provided, single submitter colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia type 1,Germ cell tumor of testis,Levy-Hollister syndrome,achondroplasia,cervical cancer,Muenke Syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,hypochondroplasia unknown Detail
Pathogenic 2021-10-21 criteria provided, single submitter colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia type 1,Germ cell tumor of testis,Levy-Hollister syndrome,achondroplasia,cervical cancer,Muenke Syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,hypochondroplasia unknown Detail
Pathogenic 2021-10-21 criteria provided, single submitter colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia type 1,Germ cell tumor of testis,Levy-Hollister syndrome,achondroplasia,cervical cancer,Muenke Syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,hypochondroplasia unknown Detail
Pathogenic 2021-10-21 criteria provided, single submitter colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia type 1,Germ cell tumor of testis,Levy-Hollister syndrome,achondroplasia,cervical cancer,Muenke Syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,hypochondroplasia unknown Detail
Pathogenic 2021-10-21 criteria provided, single submitter colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia type 1,Germ cell tumor of testis,Levy-Hollister syndrome,achondroplasia,cervical cancer,Muenke Syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,hypochondroplasia unknown Detail
Pathogenic 2021-10-21 criteria provided, single submitter colorectal cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Thanatophoric dysplasia type 1,Germ cell tumor of testis,Levy-Hollister syndrome,achondroplasia,cervical cancer,Muenke Syndrome,Malignant tumor of urinary bladder,Thanatophoric dysplasia, type 2,hypochondroplasia unknown Detail
not provided no assertion provided achondroplasia,hypochondroplasia,Muenke Syndrome,Thanatophoric dysplasia type 1,Crouzon syndrome-acanthosis nigricans syndrome unknown Detail
not provided no assertion provided achondroplasia,hypochondroplasia,Muenke Syndrome,Thanatophoric dysplasia type 1,Crouzon syndrome-acanthosis nigricans syndrome unknown Detail
not provided no assertion provided achondroplasia,hypochondroplasia,Muenke Syndrome,Thanatophoric dysplasia type 1,Crouzon syndrome-acanthosis nigricans syndrome unknown Detail
not provided no assertion provided achondroplasia,hypochondroplasia,Muenke Syndrome,Thanatophoric dysplasia type 1,Crouzon syndrome-acanthosis nigricans syndrome unknown Detail
not provided no assertion provided achondroplasia,hypochondroplasia,Muenke Syndrome,Thanatophoric dysplasia type 1,Crouzon syndrome-acanthosis nigricans syndrome unknown Detail
Pathogenic 2024-03-26 criteria provided, single submitter FGFR3-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.483 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) The associated of FGFR3 mutations with craniosynostosis has been restricted to t... BeFree 22038757 Detail
0.564 Muenke Syndrome The associated of FGFR3 mutations with craniosynostosis has been restricted to t... BeFree 22038757 Detail
<0.001 Muenke Syndrome However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer... BeFree 14613973 Detail
0.564 Muenke Syndrome The heterozygous Pro250Arg substitution mutation in fibroblast growth factor rec... BeFree 18818193 Detail
0.030 craniosynostosis FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic... BeFree 15915095 Detail
0.332 Pfeiffer syndrome However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer... BeFree 14613973 Detail
0.564 Muenke Syndrome The Pro250Arg mutation in the FGFR3 gene is found in patients with Muenke syndro... BeFree 21403557 Detail
<0.001 Scaphycephaly Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S25... BeFree 19755431 Detail
0.001 Craniofacial dysostosis type 1 Two patients labeled as having Crouzon syndrome had the Pro250Arg mutation in ex... BeFree 10541159 Detail
<0.001 Congenital abnormal Synostosis Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndro... BeFree 11424131 Detail
0.030 craniosynostosis Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coron... BeFree 9107244 Detail
0.564 Muenke Syndrome A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg ... BeFree 24168007 Detail
0.030 craniosynostosis P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated wit... BeFree 17103449 Detail
<0.001 Muenke Syndrome P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated wit... BeFree 17103449 Detail
0.030 craniosynostosis The heterozygous Pro250Arg substitution mutation in fibroblast growth factor rec... BeFree 18818193 Detail
0.564 Muenke Syndrome However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer... BeFree 14613973 Detail
<0.001 Arnold Chiari Malformation The majority of associated anomalies, with the exception of psychomotor retardat... BeFree 22544111 Detail
<0.001 Scaphycephaly Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S25... BeFree 19755431 Detail
0.564 Muenke Syndrome Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulde... UNIPROT 11746040 Detail
0.030 craniosynostosis The Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago,... BeFree 22872265 Detail
<0.001 Epithelial hyperplasia of skin Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndro... BeFree 11424131 Detail
0.564 Muenke Syndrome Mutation analysis of FGFR-3 revealed a missense mutation in exon 6, c.749 C&gt;G... BeFree 21233754 Detail
0.455 Apert syndrome Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S25... BeFree 19755431 Detail
0.001 craniosynostosis FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic... BeFree 15915095 Detail
<0.001 Scaphycephaly Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S25... BeFree 19755431 Detail
0.001 Craniofacial Dysostosis Two patients labeled as having Crouzon syndrome had the Pro250Arg mutation in ex... BeFree 10541159 Detail
0.240 Saethre-Chotzen syndrome NA CLINVAR Detail
0.030 craniosynostosis We compare the clinical characteristics of previously reported cases of this uni... BeFree 9600744 Detail
0.030 craniosynostosis The Pro250Arg mutation in the FGFR3 gene is found in patients with Muenke syndro... BeFree 21403557 Detail
0.001 craniosynostosis Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutatio... BeFree 9279764 Detail
0.455 Apert syndrome However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer... BeFree 14613973 Detail
0.564 Muenke Syndrome NA CLINVAR Detail
0.564 Muenke Syndrome Here, we report a familial case of MS in a female patient with a Pro250Arg mutat... BeFree 20592905 Detail
<0.001 Congenital abnormal Synostosis Genetic testing of nonsyndromic cases (at least for FGFR3 P250R and FGFR2 exons ... BeFree 20643727 Detail
0.564 Muenke Syndrome P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated wit... BeFree 17103449 Detail
0.030 craniosynostosis A recurrent point mutation in the fibroblast growth factor receptor 3 (FGFR3) ge... BeFree 9950359 Detail
0.030 craniosynostosis We report on a 3-year-old girl, from a 3-generation family with an FGFR3 Pro250A... BeFree 20707699 Detail
0.030 craniosynostosis Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutatio... BeFree 9279764 Detail
<0.001 Plagiocephaly To determine whether the autosomal dominant fibroblast growth factor receptor 3 ... BeFree 9580776 Detail
<0.001 Apert syndrome Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S25... BeFree 19755431 Detail
<0.001 Muenke Syndrome However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer... BeFree 14613973 Detail
0.564 Muenke Syndrome Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalit... BeFree 9600744 Detail
0.005 Congenital abnormal Synostosis Here we present 61 individuals from 20 unrelated families where coronal synostos... BeFree 9042914 Detail
0.001 ACROCEPHALOPOLYSYNDACTYLY TYPE IV However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer... BeFree 14613973 Detail
0.001 Pfeiffer syndrome However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer... BeFree 14613973 Detail
<0.001 Scaphycephaly Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S25... BeFree 19755431 Detail
0.001 craniosynostosis P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated wit... BeFree 17103449 Detail
0.240 Saethre-Chotzen syndrome Although phenotypically diagnosed as having Saethre-Chotzen syndrome, three fami... BeFree 9259286 Detail
0.030 craniosynostosis New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 ... BeFree 11467490 Detail
0.030 craniosynostosis A recurrent point mutation in the fibroblast growth factor receptor 3 gene that ... BeFree 10761652 Detail
<0.001 Apert syndrome Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S25... BeFree 19755431 Detail
0.452 Saethre-Chotzen syndrome Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S25... BeFree 19755431 Detail
<0.001 Congenital abnormal Synostosis Genetic testing of nonsyndromic cases (at least for FGFR3 P250R and FGFR2 exons ... BeFree 20643727 Detail
<0.001 Muenke Syndrome Mutation analysis of FGFR-3 revealed a missense mutation in exon 6, c.749 C&gt;G... BeFree 21233754 Detail
0.010 ACROCEPHALOPOLYSYNDACTYLY TYPE IV However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer... BeFree 14613973 Detail
0.005 Congenital abnormal Synostosis Genetic testing of nonsyndromic cases (at least for FGFR3 P250R and FGFR2 exons ... BeFree 20643727 Detail
0.030 craniosynostosis Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of ... BeFree 9279753 Detail
0.005 Congenital abnormal Synostosis Because it is impossible to predict the FGFR3 Pro250Arg mutation status based on... BeFree 9580776 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND Muenke syndrome ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND Saethre-Chotzen syndrome ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND not specified ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND Craniosynostosis syndrome ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND not provided ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND Inborn genetic diseases ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND Hypochondroplasia ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND Achondroplasia ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND Abnormality of the nervous system ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND FGFR3-related chondrodysplasia ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) AND FGFR3-related disorder ClinVar Detail
The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the ... DisGeNET Detail
The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the ... DisGeNET Detail
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg ... DisGeNET Detail
The heterozygous Pro250Arg substitution mutation in fibroblast growth factor receptor 3 (FGFR3), whi... DisGeNET Detail
FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosyno... DisGeNET Detail
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg ... DisGeNET Detail
The Pro250Arg mutation in the FGFR3 gene is found in patients with Muenke syndrome and is one of the... DisGeNET Detail
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome... DisGeNET Detail
Two patients labeled as having Crouzon syndrome had the Pro250Arg mutation in exon 7 of FGFR3. DisGeNET Detail
Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) r... DisGeNET Detail
Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. DisGeNET Detail
A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case repor... DisGeNET Detail
P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosyno... DisGeNET Detail
P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosyno... DisGeNET Detail
The heterozygous Pro250Arg substitution mutation in fibroblast growth factor receptor 3 (FGFR3), whi... DisGeNET Detail
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg ... DisGeNET Detail
The majority of associated anomalies, with the exception of psychomotor retardation and Chiari malfo... DisGeNET Detail
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome... DisGeNET Detail
Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without P... DisGeNET Detail
The Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago, represents the sing... DisGeNET Detail
Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) r... DisGeNET Detail
Mutation analysis of FGFR-3 revealed a missense mutation in exon 6, c.749 C&gt;G, with a resultant a... DisGeNET Detail
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome... DisGeNET Detail
FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosyno... DisGeNET Detail
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome... DisGeNET Detail
Two patients labeled as having Crouzon syndrome had the Pro250Arg mutation in exon 7 of FGFR3. DisGeNET Detail
NA DisGeNET Detail
We compare the clinical characteristics of previously reported cases of this unique Pro250Arg mutati... DisGeNET Detail
The Pro250Arg mutation in the FGFR3 gene is found in patients with Muenke syndrome and is one of the... DisGeNET Detail
Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large c... DisGeNET Detail
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg ... DisGeNET Detail
NA DisGeNET Detail
Here, we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 (IgII-... DisGeNET Detail
Genetic testing of nonsyndromic cases (at least for FGFR3 P250R and FGFR2 exons IIIa/c) should be ta... DisGeNET Detail
P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosyno... DisGeNET Detail
A recurrent point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene that converts pro... DisGeNET Detail
We report on a 3-year-old girl, from a 3-generation family with an FGFR3 Pro250Arg mutation, who in ... DisGeNET Detail
Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large c... DisGeNET Detail
To determine whether the autosomal dominant fibroblast growth factor receptor 3 (FGFR3) Pro250Arg mu... DisGeNET Detail
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome... DisGeNET Detail
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg ... DisGeNET Detail
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg... DisGeNET Detail
Here we present 61 individuals from 20 unrelated families where coronal synostosis is due to an amin... DisGeNET Detail
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg ... DisGeNET Detail
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg ... DisGeNET Detail
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome... DisGeNET Detail
P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosyno... DisGeNET Detail
Although phenotypically diagnosed as having Saethre-Chotzen syndrome, three families were found to h... DisGeNET Detail
New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated ... DisGeNET Detail
A recurrent point mutation in the fibroblast growth factor receptor 3 gene that converts proline 250... DisGeNET Detail
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome... DisGeNET Detail
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome... DisGeNET Detail
Genetic testing of nonsyndromic cases (at least for FGFR3 P250R and FGFR2 exons IIIa/c) should be ta... DisGeNET Detail
Mutation analysis of FGFR-3 revealed a missense mutation in exon 6, c.749 C&gt;G, with a resultant a... DisGeNET Detail
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg ... DisGeNET Detail
Genetic testing of nonsyndromic cases (at least for FGFR3 P250R and FGFR2 exons IIIa/c) should be ta... DisGeNET Detail
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentatio... DisGeNET Detail
Because it is impossible to predict the FGFR3 Pro250Arg mutation status based on clinical examinatio... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4647924 dbSNP
Genome
hg38
Position
chr4:1,801,844-1,801,844
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser