Details for SETX:c.3229G>A, p.Asp1077Asn

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
135203756132328369
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SETX
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_015046.5
CDNA CHANGE c.3229G>A
PROTEIN CHANGE p.Asp1077Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00080.00.00.00.0020.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0012510.00012310.0013020.0041690.00010870.00013890.0012510.00098040.002353

ESP
AAEA
0.00022710.0009302
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.29924Polymorphism
DBSNP ID rs145097270
1 combination linked to SETX:c.3229G>A, p.Asp1077Asn OLI659
1 disease linked to SETX:c.3229G>A, p.Asp1077Asn Amyotrophic lateral sclerosis
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