Details for SMARCA2:c.210G>A, p.Met70Ile

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
20292322029232
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SMARCA2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001289396.1
CDNA CHANGE c.210G>A
PROTEIN CHANGE p.Met70Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.00.00.0031

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0003420.00.00.00.00.00.00.00033050.002758

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.233503Polymorphism
DBSNP ID rs529054959
1 combination linked to SMARCA2:c.210G>A, p.Met70Ile OLI646
1 disease linked to SMARCA2:c.210G>A, p.Met70Ile Schizophrenia
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