Annotation Detail
Information
- Associated Genes
- SMARCA2
- Associated Variants
-
SMARCA2 p.Arg1213Trp (p.R1213W)
(
ENST00000349721.8,
ENST00000357248.8,
ENST00000382194.6,
ENST00000382203.5,
ENST00000450198.6,
ENST00000704350.1,
ENST00000704352.1,
ENST00000704353.1 )
SMARCA2 p.Arg1213Trp (p.R1213W) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_003070.5(SMARCA2):c.3637C>T (p.Arg1213Trp) AND not provided
- ClinVar Allele ID
- 38963
- ClinVar RefSeq Alternation Syntax
- NM_001289397.2:c.3463C>T
- ClinVar RefSeq Alternation Syntax
- NM_139045.4:c.3637C>T
- ClinVar RefSeq Alternation Syntax
- NM_001289396.2:c.3637C>T
- ClinVar RefSeq Alternation Syntax
- NM_003070.5:c.3637C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-09-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000059683
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
Drugs