chr4:1807890:A>T Detail (hg19) (FGFR3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:1,807,890-1,807,890 |
hg38 | chr4:1,806,163-1,806,163 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_022965.3:c.1937A>T | NP_075254.1:p.Lys646Met |
NM_000142.4:c.1949A>T | NP_000133.1:p.Lys650Met | |
NM_001163213.1:c.1955A>T | NP_001156685.1:p.Lys652Met |
Summary
MGeND
Clinical significance |
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Variant entry | 4 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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other |
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MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University | ||||
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other |
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MGS000083
(TMGS000166) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Keio University |
||||
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other |
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MGS000083
(TMGS000166) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Keio University |
||||
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other |
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MGS000083
(TMGS000166) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2008-01-15 | no assertion criteria provided | SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS |
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Detail |
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2008-01-15 | no assertion criteria provided | Thanatophoric dysplasia type 1 |
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Detail |
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2022-07-25 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2022-09-29 | criteria provided, single submitter | hypochondroplasia |
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Detail |
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2022-05-31 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
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Detail |
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2022-05-31 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
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Detail |
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2022-05-31 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
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Detail |
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2022-05-31 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
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Detail |
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2022-05-31 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
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Detail |
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2022-05-31 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
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Detail |
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2022-05-31 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
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Detail |
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2022-05-31 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
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Detail |
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2022-05-31 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
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Detail |
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2022-05-31 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
![]() |
Detail |
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2022-05-31 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
![]() |
Detail |
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2022-05-31 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
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Detail |
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2022-05-31 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
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Detail |
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2022-05-31 | criteria provided, single submitter | Thanatophoric dysplasia type 1,colorectal cancer,hypochondroplasia,Malignant tumor of urinary bladder,Muenke Syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,epidermal nevus,Crouzon syndrome-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Germ cell tumor of testis,cervical cancer,achondroplasia,Levy-Hollister syndrome,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.457 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | NA | CLINVAR | Detail | |
<0.001 | Developmental delay (disorder) | We previously discovered a novel missense mutation (Lys650Met) in the tyrosine k... | BeFree | 10377013 | Detail |
0.002 | chondrosarcoma | Meclozine also ameliorated abnormally suppressed proliferation of human chondros... | BeFree | 24324705 | Detail |
0.495 | Hypochondroplasia (disorder) | NA | CLINVAR | Detail | |
0.442 | Thanatophoric dysplasia, type 2 | Two missense mutations in this codon are known to result in strong constitutive ... | BeFree | 11055896 | Detail |
0.122 | Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans | Two missense mutations in this codon are known to result in strong constitutive ... | BeFree | 11055896 | Detail |
0.457 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric... | BeFree | 25119967 | Detail |
0.457 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | The FGFR3 Lys650Met mutation results in severe disturbances in endochondral bone... | BeFree | 10377013 | Detail |
0.621 | achondroplasia | We previously discovered a novel missense mutation (Lys650Met) in the tyrosine k... | BeFree | 10377013 | Detail |
0.150 | thanatophoric dysplasia | FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric... | BeFree | 25119967 | Detail |
<0.001 | chondrosarcoma | Meclozine also ameliorated abnormally suppressed proliferation of human chondros... | BeFree | 24324705 | Detail |
0.002 | chondrosarcoma | Meclozine also ameliorated abnormally suppressed proliferation of human chondros... | BeFree | 24324705 | Detail |
0.122 | Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans | Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN)... | BeFree | 10377013 | Detail |
0.457 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | Two missense mutations in this codon are known to result in strong constitutive ... | BeFree | 11055896 | Detail |
0.007 | Skeletal dysplasia | FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric... | BeFree | 25119967 | Detail |
0.621 | achondroplasia | We refer to the phenotype caused by the Lys650Met mutation as severe achondropla... | BeFree | 10053006 | Detail |
0.007 | Skeletal dysplasia | A novel skeletal dysplasia with developmental delay and acanthosis nigricans is ... | BeFree | 10053006 | Detail |
0.122 | Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans | Prenatal and postnatal presentation of severe achondroplasia with developmental ... | BeFree | 18076102 | Detail |
<0.001 | Developmental delay (disorder) | We refer to the phenotype caused by the Lys650Met mutation as severe achondropla... | BeFree | 10053006 | Detail |
0.122 | Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans | FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric... | BeFree | 25119967 | Detail |
0.014 | acanthosis nigricans | A novel skeletal dysplasia with developmental delay and acanthosis nigricans is ... | BeFree | 10053006 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND... | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND Thanatophoric dysplasia type 1 | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND not provided | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND Hypochondroplasia | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | Detail |
We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the ... | DisGeNET | Detail |
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cel... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Two missense mutations in this codon are known to result in strong constitutive activation of the FG... | DisGeNET | Detail |
Two missense mutations in this codon are known to result in strong constitutive activation of the FG... | DisGeNET | Detail |
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDA... | DisGeNET | Detail |
The FGFR3 Lys650Met mutation results in severe disturbances in endochondral bone growth that approac... | DisGeNET | Detail |
We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the ... | DisGeNET | Detail |
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDA... | DisGeNET | Detail |
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cel... | DisGeNET | Detail |
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cel... | DisGeNET | Detail |
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysi... | DisGeNET | Detail |
Two missense mutations in this codon are known to result in strong constitutive activation of the FG... | DisGeNET | Detail |
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDA... | DisGeNET | Detail |
We refer to the phenotype caused by the Lys650Met mutation as severe achondroplasia with development... | DisGeNET | Detail |
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Me... | DisGeNET | Detail |
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis... | DisGeNET | Detail |
We refer to the phenotype caused by the Lys650Met mutation as severe achondroplasia with development... | DisGeNET | Detail |
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDA... | DisGeNET | Detail |
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Me... | 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
- rs121913105 dbSNP
- Genome
- hg19
- Position
- chr4:1,807,890-1,807,890
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
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