Annotation Detail
Information
- Associated Genes
- SMARCA2
- Associated Variants
-
SMARCA2 p.His854Arg (p.H854R)
(
ENST00000349721.8,
ENST00000357248.8,
ENST00000382194.6,
ENST00000382203.5,
ENST00000450198.6,
ENST00000704350.1,
ENST00000704352.1,
ENST00000704353.1 )
SMARCA2 p.His854Arg (p.H854R) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 ) - Associated Disease
- Nicolaides-Baraitser syndrome Coffin-Siris syndrome
- Source Database
- ClinVar
- Description
- NM_003070.5(SMARCA2):c.2561A>G (p.His854Arg) AND multiple conditions
- ClinVar Allele ID
- 79656
- ClinVar RefSeq Alternation Syntax
- NM_003070.5:c.2561A>G
- ClinVar RefSeq Alternation Syntax
- NM_001289396.2:c.2561A>G
- ClinVar RefSeq Alternation Syntax
- NM_001289397.2:c.2561A>G
- ClinVar RefSeq Alternation Syntax
- NM_139045.4:c.2561A>G
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001249330
- ClinVar Disease
- Coffin-Siris syndrome
- ClinVar Disease
- Nicolaides-Baraitser syndrome
- Observed Origin Sample
- unknown
Drugs