Annotation Detail
Information
- Associated Genes
- SHOX
- Associated Variants
-
SHOX p.Ala170Asp (p.A170D)
(
ENST00000334060.8,
ENST00000381575.6,
ENST00000381578.6,
ENST00000686671.1 )
SHOX p.Ala170Asp (p.A170D) ( ENST00000711141.1, ENST00000711142.1, ENST00000711143.1, ENST00000711145.1 )
SHOX p.Ala170Asp (p.A170D) ( ENST00000334060.8, ENST00000381575.6, ENST00000381578.6, ENST00000686671.1 )
SHOX p.Ala170Asp (p.A170D) ( ENST00000711141.1, ENST00000711142.1, ENST00000711143.1, ENST00000711145.1 ) - Associated Disease
- Leri-Weill dyschondrosteosis
- Source Database
- ClinVar
- Description
- NM_000451.4(SHOX):c.509C>A (p.Ala170Asp) AND Leri-Weill dyschondrosteosis
- ClinVar Allele ID
- 38950
- ClinVar RefSeq Alternation Syntax
- NM_000451.4:c.509C>A
- ClinVar RefSeq Alternation Syntax
- NM_006883.2:c.509C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2011-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000022889
- ClinVar Disease
- Leri-Weill dyschondrosteosis
- Observed Origin Sample
- germline
- Pubmed
- 21712857
Drugs