Annotation Detail

Information
Associated Genes
SMARCA2
Associated Variants
SMARCA2 p.Arg855Gly (p.R855G) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg855Gly (p.R855G) ( ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1, ENST00000349721.8, ENST00000357248.8, ENST00000382194.6 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_003070.5(SMARCA2):c.2563C>G (p.Arg855Gly) AND not provided
ClinVar Allele ID
79657
ClinVar RefSeq Alternation Syntax
NM_001289397.2:c.2563C>G
ClinVar RefSeq Alternation Syntax
NM_003070.5:c.2563C>G
ClinVar RefSeq Alternation Syntax
NM_001289396.2:c.2563C>G
ClinVar RefSeq Alternation Syntax
NM_139045.4:c.2563C>G
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000059663
ClinVar Disease
not provided
Observed Origin Sample
not provided
Drugs