Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 p.Ser279Cys (p.S279C)
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 p.Ser279Cys (p.S279C) ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- achondroplasia
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys) AND Achondroplasia
- ClinVar Allele ID
- 31395
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.835A>T
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.835A>T
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.835A>T
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.835A>T
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.1110A>T
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.835A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-06-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000017766
- ClinVar Disease
- Achondroplasia
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 17895900
- Pubmed
- 16912704
Drugs