chr4:1807891:G>C Detail (hg19) (FGFR3)

Information

Genome

Assembly Position
hg19 chr4:1,807,891-1,807,891
hg38 chr4:1,806,164-1,806,164 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001163213.1:c.1956G>C NP_001156685.1:p.Lys652Asn
NM_022965.3:c.1938G>C NP_075254.1:p.Lys646Asn
NM_000142.4:c.1950G>C NP_000133.1:p.Lys650Asn
Summary

MGeND

Clinical significance
Variant entry
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
COSMIC COSM3993567 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2021-06-01 criteria provided, single submitter hypochondroplasia germline paternal Detail
Pathogenic 2023-08-10 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-08-21 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome unknown Detail
Pathogenic 2021-08-21 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome unknown Detail
Pathogenic 2021-08-21 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome unknown Detail
Pathogenic 2021-08-21 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome unknown Detail
Pathogenic 2021-08-21 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome unknown Detail
Pathogenic 2021-08-21 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome unknown Detail
Pathogenic 2021-08-21 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome unknown Detail
Pathogenic 2021-08-21 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome unknown Detail
Pathogenic 2021-08-21 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome unknown Detail
Pathogenic 2021-08-21 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome unknown Detail
Pathogenic 2021-08-21 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome unknown Detail
Pathogenic 2021-08-21 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome unknown Detail
Pathogenic 2021-08-21 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome unknown Detail
Pathogenic 2021-08-21 criteria provided, single submitter Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,achondroplasia,cervical cancer,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Levy-Hollister syndrome unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.495 Hypochondroplasia (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND Hypochondroplasia ClinVar Detail
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND not provided ClinVar Detail
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) AND multiple conditions ClinVar Detail
NA 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
rs28928868 dbSNP
Genome
hg19
Position
chr4:1,807,891-1,807,891
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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