chr4:1803564:C>T Detail (hg19) (FGFR3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:1,803,564-1,803,564 |
| hg38 | chr4:1,801,837-1,801,837 View the variant detail on this assembly version. |
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 |
Pathogenic
not provided
|
| Variant entry | 5 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2020/04/20 | bronchus or lung, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
not provided
|
Penile cancer |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
2020/04/20 | bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-09-21 | criteria provided, multiple submitters, no conflicts | Thanatophoric dysplasia type 1 |
de novo
germline
maternal
unknown
|
Detail |
Pathogenic
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | multiple myeloma |
somatic
|
Detail |
|
Pathogenic
|
2008-09-01 | no assertion criteria provided | Skeletal dysplasia with acanthosis nigricans |
unknown
|
Detail |
|
Pathogenic
|
2023-09-22 | criteria provided, single submitter | epidermal nevus |
somatic
|
Detail |
|
Pathogenic
|
2008-09-01 | no assertion criteria provided | seborrheic keratosis |
somatic
|
Detail |
|
Pathogenic
|
2024-01-11 | criteria provided, multiple submitters, no conflicts | not provided |
de novo
germline
|
Detail |
|
Pathogenic
|
2015-05-08 | criteria provided, single submitter | Skeletal dysplasia,Growth delay |
unknown
|
Detail |
|
Pathogenic
|
2015-05-08 | criteria provided, single submitter | Skeletal dysplasia,Growth delay |
unknown
|
Detail |
|
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-13 | no assertion criteria provided | carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell lung carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
somatic
|
Detail |
|
Pathogenic
|
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 |
unknown
|
Detail |
|
Pathogenic
|
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 |
unknown
|
Detail |
|
Pathogenic
|
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 |
unknown
|
Detail |
|
Pathogenic
|
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 |
unknown
|
Detail |
|
Pathogenic
|
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 |
unknown
|
Detail |
|
Pathogenic
|
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 |
unknown
|
Detail |
|
Pathogenic
|
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 |
unknown
|
Detail |
|
Pathogenic
|
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 |
unknown
|
Detail |
|
Pathogenic
|
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 |
unknown
|
Detail |
|
Pathogenic
|
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 |
unknown
|
Detail |
|
Pathogenic
|
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 |
unknown
|
Detail |
|
Pathogenic
|
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 |
unknown
|
Detail |
|
Pathogenic
|
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 |
unknown
|
Detail |
|
Pathogenic
|
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 |
unknown
|
Detail |
|
Pathogenic
|
2016-01-01 | criteria provided, single submitter | cervical cancer |
unknown
|
Detail |
|
Pathogenic
|
criteria provided, single submitter |
somatic
|
Detail | ||
|
Pathogenic
|
2024-03-17 | criteria provided, multiple submitters, no conflicts | achondroplasia |
de novo
germline
|
Detail |
|
Pathogenic
|
2022-03-05 | criteria provided, single submitter | FGFR3-related chondrodysplasia |
germline
|
Detail |
|
Pathogenic
|
2023-04-06 | criteria provided, multiple submitters, no conflicts | FGFR3-related disorder |
de novo
germline
|
Detail |
|
Pathogenic
|
2022-07-05 | criteria provided, single submitter | Connective tissue disorder |
germline
|
Detail |
|
Pathogenic
|
2021-06-30 | no assertion criteria provided |
germline
|
Detail | |
|
Pathogenic
|
no assertion criteria provided | Malignant tumor of urinary bladder |
somatic
|
Detail | |
|
Pathogenic
|
criteria provided, single submitter | Thanatophoric dysplasia, type 2 |
germline
|
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 |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs121913482 dbSNP
- Genome
- hg19
- Position
- chr4:1,803,564-1,803,564
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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