Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Ser373Cys (p.S373C)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Ser373Cys (p.S373C) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- Thanatophoric dysplasia type 1
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys) AND Thanatophoric dysplasia type 1
- ClinVar Allele ID
- 31372
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.931-459A>T
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.1111A>T
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.1117A>T
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.1111A>T
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.1111A>T
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.1537A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1995-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000017736
- ClinVar Disease
- Thanatophoric dysplasia type 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 7773297
Drugs