Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Arg248Cys (p.R248C)
(
ENST00000481110.7,
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8 )
FGFR3 p.Arg248Cys (p.R248C) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- Skeletal dysplasia with acanthosis nigricans
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) AND Skeletal dysplasia with acanthosis nigricans
- ClinVar Allele ID
- 31371
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.1017C>T
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.742C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.742C>T
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.742C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.742C>T
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.742C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2008-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000017733
- ClinVar Disease
- Skeletal dysplasia with acanthosis nigricans
- Observed Origin Sample
- unknown
- Pubmed
- 12833394
- Pubmed
- 10073901
- Pubmed
- 7773297
- Pubmed
- 16841094
- Pubmed
- 15772091
- Pubmed
- 18642369
- Pubmed
- 9677066
- Pubmed
- 11529856
- Pubmed
- 8858131
Drugs