Annotation Detail
Information
- Associated Genes
- SHOX
- Associated Variants
-
SHOX p.Arg173Cys (p.R173C)
(
ENST00000334060.8,
ENST00000381575.6,
ENST00000381578.6,
ENST00000686671.1 )
SHOX p.Arg173Cys (p.R173C) ( ENST00000711141.1, ENST00000711142.1, ENST00000711143.1, ENST00000711145.1 )
SHOX p.Arg173Cys (p.R173C) ( ENST00000334060.8, ENST00000381575.6, ENST00000381578.6, ENST00000686671.1 )
SHOX p.Arg173Cys (p.R173C) ( ENST00000711141.1, ENST00000711142.1, ENST00000711143.1, ENST00000711145.1 ) - Associated Disease
- Leri-Weill dyschondrosteosis
- Source Database
- ClinVar
- Description
- NM_000451.4(SHOX):c.517C>T (p.Arg173Cys) AND Leri-Weill dyschondrosteosis
- ClinVar Allele ID
- 24917
- ClinVar RefSeq Alternation Syntax
- NM_006883.2:c.517C>T
- ClinVar RefSeq Alternation Syntax
- NM_000451.4:c.517C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-01-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000010554
- ClinVar Disease
- Leri-Weill dyschondrosteosis
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Pubmed
- 12116253
- Pubmed
- 11403039
Drugs