chr4:1801837:C>T Detail (hg38) (FGFR3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:1,803,564-1,803,564 View the variant detail on this assembly version. |
hg38 | chr4:1,801,837-1,801,837 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001163213.1:c.742C>T | NP_001156685.1:p.Arg248Cys |
NM_022965.3:c.730C>T | NP_075254.1:p.Arg244Cys | |
NM_000142.4:c.742C>T | NP_000133.1:p.Arg248Cys |
Summary
MGeND
Clinical significance |
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Variant entry | 2 |
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 |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-09-21 | criteria provided, multiple submitters, no conflicts | Thanatophoric dysplasia type 1 |
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Detail |
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2016-05-31 | no assertion criteria provided | multiple myeloma |
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Detail |
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2008-09-01 | no assertion criteria provided | Skeletal dysplasia with acanthosis nigricans |
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Detail |
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2023-09-22 | criteria provided, single submitter | epidermal nevus |
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Detail |
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2008-09-01 | no assertion criteria provided | seborrheic keratosis |
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Detail |
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2024-01-11 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2015-05-08 | criteria provided, single submitter | Skeletal dysplasia,Growth delay |
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Detail |
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2015-05-08 | criteria provided, single submitter | Skeletal dysplasia,Growth delay |
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Detail |
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2015-07-14 | no assertion criteria provided | lung adenocarcinoma |
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Detail |
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2016-05-13 | no assertion criteria provided | carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided |
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Detail | |
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2016-05-31 | no assertion criteria provided | Squamous cell lung carcinoma |
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Detail |
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2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
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Detail |
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2018-10-31 | criteria provided, single submitter | Muenke Syndrome,Levy-Hollister syndrome,Malignant tumor of testis,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,epidermal nevus,Malignant tumor of urinary bladder,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,cervical cancer,achondroplasia |
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Detail |
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2018-10-31 | criteria provided, single submitter | Muenke Syndrome,Levy-Hollister syndrome,Malignant tumor of testis,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,epidermal nevus,Malignant tumor of urinary bladder,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,cervical cancer,achondroplasia |
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Detail |
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2018-10-31 | criteria provided, single submitter | Muenke Syndrome,Levy-Hollister syndrome,Malignant tumor of testis,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,epidermal nevus,Malignant tumor of urinary bladder,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,cervical cancer,achondroplasia |
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Detail |
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2018-10-31 | criteria provided, single submitter | Muenke Syndrome,Levy-Hollister syndrome,Malignant tumor of testis,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,epidermal nevus,Malignant tumor of urinary bladder,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,cervical cancer,achondroplasia |
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Detail |
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2018-10-31 | criteria provided, single submitter | Muenke Syndrome,Levy-Hollister syndrome,Malignant tumor of testis,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,epidermal nevus,Malignant tumor of urinary bladder,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,cervical cancer,achondroplasia |
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Detail |
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2018-10-31 | criteria provided, single submitter | Muenke Syndrome,Levy-Hollister syndrome,Malignant tumor of testis,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,epidermal nevus,Malignant tumor of urinary bladder,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,cervical cancer,achondroplasia |
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Detail |
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2018-10-31 | criteria provided, single submitter | Muenke Syndrome,Levy-Hollister syndrome,Malignant tumor of testis,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,epidermal nevus,Malignant tumor of urinary bladder,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,cervical cancer,achondroplasia |
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Detail |
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2018-10-31 | criteria provided, single submitter | Muenke Syndrome,Levy-Hollister syndrome,Malignant tumor of testis,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,epidermal nevus,Malignant tumor of urinary bladder,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,cervical cancer,achondroplasia |
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Detail |
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2018-10-31 | criteria provided, single submitter | Muenke Syndrome,Levy-Hollister syndrome,Malignant tumor of testis,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,epidermal nevus,Malignant tumor of urinary bladder,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,cervical cancer,achondroplasia |
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Detail |
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2018-10-31 | criteria provided, single submitter | Muenke Syndrome,Levy-Hollister syndrome,Malignant tumor of testis,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,epidermal nevus,Malignant tumor of urinary bladder,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,cervical cancer,achondroplasia |
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Detail |
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2018-10-31 | criteria provided, single submitter | Muenke Syndrome,Levy-Hollister syndrome,Malignant tumor of testis,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,epidermal nevus,Malignant tumor of urinary bladder,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,cervical cancer,achondroplasia |
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Detail |
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2018-10-31 | criteria provided, single submitter | Muenke Syndrome,Levy-Hollister syndrome,Malignant tumor of testis,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,epidermal nevus,Malignant tumor of urinary bladder,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,cervical cancer,achondroplasia |
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Detail |
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2018-10-31 | criteria provided, single submitter | Muenke Syndrome,Levy-Hollister syndrome,Malignant tumor of testis,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,epidermal nevus,Malignant tumor of urinary bladder,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,cervical cancer,achondroplasia |
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Detail |
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2018-10-31 | criteria provided, single submitter | Muenke Syndrome,Levy-Hollister syndrome,Malignant tumor of testis,Crouzon syndrome-acanthosis nigricans syndrome,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Carcinoma of colon,epidermal nevus,Malignant tumor of urinary bladder,hypochondroplasia,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Thanatophoric dysplasia, type 2,Thanatophoric dysplasia type 1,cervical cancer,achondroplasia |
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Detail |
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2016-01-01 | criteria provided, single submitter | cervical cancer |
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Detail |
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criteria provided, single submitter |
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Detail | ||
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2024-03-17 | criteria provided, multiple submitters, no conflicts | achondroplasia |
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Detail |
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2022-03-05 | criteria provided, single submitter | FGFR3-related chondrodysplasia |
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Detail |
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2023-04-06 | criteria provided, multiple submitters, no conflicts | FGFR3-related disorder |
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Detail |
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2022-07-05 | criteria provided, single submitter | Connective tissue disorder |
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Detail |
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2021-06-30 | no assertion criteria provided |
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Detail | |
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no assertion criteria provided | Malignant tumor of urinary bladder |
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Detail | |
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criteria provided, single submitter | Thanatophoric dysplasia, type 2 |
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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 | |
0.362 | NEVUS, EPIDERMAL (disorder) | NA | CLINVAR | Detail | |
0.457 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | Nucleotidic sequence using QF-PCR on exons 7,10, 15, 19 of the fibroblast growth... | BeFree | 20704477 | Detail |
0.150 | thanatophoric dysplasia | Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting... | BeFree | 12833394 | Detail |
0.269 | multiple myeloma | NA | CLINVAR | Detail | |
<0.001 | Benign neoplasm of skin | The mechanism for the high rate of somatic FGFR3 mutations in these benign skin ... | BeFree | 16778799 | Detail |
0.002 | Thanatophoric dysplasia, type 1 | Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric ... | BeFree | 20569165 | Detail |
0.007 | Skeletal dysplasia | In this communication, we report the identification of a mosaic R248C missense m... | BeFree | 12833394 | Detail |
<0.001 | Epithelial hyperplasia of skin | In this communication, we report the identification of a mosaic R248C missense m... | BeFree | 12833394 | Detail |
0.255 | seborrheic keratosis | NA | CLINVAR | Detail | |
0.457 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | An R248C mutation of FGFR3 leading to thanatophoric dysplasia type I. | BeFree | 10910625 | Detail |
0.362 | NEVUS, EPIDERMAL (disorder) | Molecular analysis of a biopsy specimen obtained from the epidermal nevus reveal... | BeFree | 18642369 | Detail |
0.457 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting... | BeFree | 12833394 | Detail |
0.150 | thanatophoric dysplasia | R248C mutation in the extracellular domain of fibrobast growth factor receptor 3... | BeFree | 10910625 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND Thanatophoric dysplasia type 1 | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND Multiple myeloma | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND Skeletal dysplasia with acanthosis nigricans | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND Epidermal nevus | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND Seborrheic keratosis | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND not provided | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND Lung adenocarcinoma | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND Carcinoma | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND Squamous cell lung carcinoma | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND multiple conditions | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND Cervical cancer | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND Hamartoma | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND Achondroplasia | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND FGFR3-related chondrodysplasia | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND FGFR3-related disorder | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND Connective tissue disorder | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND See cases | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND Malignant tumor of urinary bladder | ClinVar | Detail |
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND Thanatophoric dysplasia, type 2 | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Nucleotidic sequence using QF-PCR on exons 7,10, 15, 19 of the fibroblast growth factor receptor 3 (... | DisGeNET | Detail |
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dyspl... | DisGeNET | Detail |
NA | DisGeNET | Detail |
The mechanism for the high rate of somatic FGFR3 mutations in these benign skin tumors remains elusi... | DisGeNET | Detail |
Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-re... | DisGeNET | Detail |
In this communication, we report the identification of a mosaic R248C missense mutation in the IgII-... | DisGeNET | Detail |
In this communication, we report the identification of a mosaic R248C missense mutation in the IgII-... | DisGeNET | Detail |
NA | DisGeNET | Detail |
An R248C mutation of FGFR3 leading to thanatophoric dysplasia type I. | DisGeNET | Detail |
Molecular analysis of a biopsy specimen obtained from the epidermal nevus revealed a heterozygous R2... | DisGeNET | Detail |
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dyspl... | DisGeNET | Detail |
R248C mutation in the extracellular domain of fibrobast growth factor receptor 3 (FGFR3) was common ... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs121913482 dbSNP
- Genome
- hg38
- Position
- chr4:1,801,837-1,801,837
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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