Annotation Detail
Information
- Associated Genes
- SMARCA2
- Associated Variants
-
SMARCA2 p.Gly752Ala (p.G752A)
(
ENST00000349721.8,
ENST00000357248.8,
ENST00000382194.6,
ENST00000382203.5,
ENST00000450198.6,
ENST00000704350.1,
ENST00000704352.1,
ENST00000704353.1 )
SMARCA2 p.Thr829Ile (p.T829I) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Gly881Val (p.G881V) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Pro883Leu (p.P883L) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.His939Tyr (p.H939Y) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Gly1132Asp (p.G1132D) ( 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 )
SMARCA2 p.Arg1159Gly (p.R1159G) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg1159Gln (p.R1159Q) ( 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 )
SMARCA2 p.Arg1162His (p.R1162H) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Gln1165Lys (p.Q1165K) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Ala1201Val (p.A1201V) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Gly1202Cys (p.G1202C) ( 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 )
SMARCA2 p.Gly752Ala (p.G752A) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Thr829Ile (p.T829I) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Gly881Val (p.G881V) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Pro883Leu (p.P883L) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.His939Tyr (p.H939Y) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Gly1132Asp (p.G1132D) ( 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 )
SMARCA2 p.Arg1159Gly (p.R1159G) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Arg1159Gln (p.R1159Q) ( 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 )
SMARCA2 p.Arg1162His (p.R1162H) ( ENST00000382194.6, ENST00000349721.8, ENST00000357248.8, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Gln1165Lys (p.Q1165K) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Ala1201Val (p.A1201V) ( ENST00000349721.8, ENST00000357248.8, ENST00000382194.6, ENST00000382203.5, ENST00000450198.6, ENST00000704350.1, ENST00000704352.1, ENST00000704353.1 )
SMARCA2 p.Gly1202Cys (p.G1202C) ( 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
- Nicolaides Baraitser syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.480814325616241
- Year of publication
- NA
Drugs