Annotation Detail
Information
- Associated Genes
- SMARCA2
- Associated Variants
-
SMARCA2 p.Asp1158Val (p.D1158V)
(
ENST00000349721.8,
ENST00000357248.8,
ENST00000382194.6,
ENST00000382203.5,
ENST00000450198.6,
ENST00000704350.1,
ENST00000704352.1,
ENST00000704353.1 )
SMARCA2 p.Asp1158Val (p.D1158V) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 ) - Associated Disease
- Nicolaides-Baraitser syndrome
- Source Database
- ClinVar
- Description
- NM_003070.5(SMARCA2):c.3473A>T (p.Asp1158Val) AND Nicolaides-Baraitser syndrome
- ClinVar Allele ID
- 38966
- ClinVar RefSeq Alternation Syntax
- NM_001289396.2:c.3473A>T
- ClinVar RefSeq Alternation Syntax
- NM_001289397.2:c.3299A>T
- ClinVar RefSeq Alternation Syntax
- NM_003070.5:c.3473A>T
- ClinVar RefSeq Alternation Syntax
- NM_139045.4:c.3473A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2012-02-26
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000022911
- ClinVar Disease
- Nicolaides-Baraitser syndrome
- Observed Origin Sample
- germline
- Pubmed
- 22366787
Drugs