Details for CHAT:c.2629G>A, p.Ala877Thr

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
10509961050997
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CHAT
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001142929.2
CDNA CHANGE c.2629G>A
PROTEIN CHANGE p.Ala877Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.02260.00080.12540.0010.01290.0112

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.02070.0032350.09650.0039130.00010890.02450.0079060.018090.006909

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign1.390631Polymorphism
DBSNP ID NA
2 combinations linked to CHAT:c.2629G>A, p.Ala877Thr OLI1470; OLI1471
1 disease linked to CHAT:c.2629G>A, p.Ala877Thr NON RARE IN EUROPE: Alzheimer disease
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