Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 c.1082-545G>T
(
ENST00000340107.9,
ENST00000352904.6,
ENST00000412135.7,
ENST00000440486.8,
ENST00000481110.7 )
FGFR3 c.1082-545G>T ( ENST00000340107.9, ENST00000352904.6, ENST00000412135.7, ENST00000440486.8, ENST00000481110.7 ) - Associated Disease
- hypochondroplasia
- Source Database
- ClinVar
- Description
- NM_000142.5(FGFR3):c.1024G>T (p.Gly342Cys) AND Hypochondroplasia
- ClinVar Allele ID
- 76734
- ClinVar RefSeq Alternation Syntax
- NM_000142.5:c.1024G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354810.2:c.1024G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354809.2:c.1024G>T
- ClinVar RefSeq Alternation Syntax
- NM_001163213.2:c.1082-545G>T
- ClinVar RefSeq Alternation Syntax
- NM_022965.4:c.931-1039G>T
- ClinVar RefSeq Alternation Syntax
- NR_148971.2:n.1450G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-08-23
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000056066
- ClinVar Disease
- Hypochondroplasia
- Observed Origin Sample
- germline
- Pubmed
- 23726269
Drugs