Annotation Detail
Information
- Associated Genes
- SMARCA2
- Associated Variants
-
SMARCA2 p.Arg1159Leu (p.R1159L)
(
ENST00000349721.8,
ENST00000357248.8,
ENST00000382194.6,
ENST00000382203.5,
ENST00000450198.6,
ENST00000704350.1,
ENST00000704352.1,
ENST00000704353.1 )
SMARCA2 p.Arg1159Leu (p.R1159L) ( 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.3476G>T (p.Arg1159Leu) AND not provided
- ClinVar Allele ID
- 38970
- ClinVar RefSeq Alternation Syntax
- NM_003070.5:c.3476G>T
- ClinVar RefSeq Alternation Syntax
- NM_139045.4:c.3476G>T
- ClinVar RefSeq Alternation Syntax
- NM_001289397.2:c.3302G>T
- ClinVar RefSeq Alternation Syntax
- NM_001289396.2:c.3476G>T
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000059677
- ClinVar Disease
- not provided
- Observed Origin Sample
- not provided
Drugs