Details for PGAM4:c.79G>A, p.Asp27Asn

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
7722505777969560
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PGAM4
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001029891.2
CDNA CHANGE c.79G>A
PROTEIN CHANGE p.Asp27Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00030.00.00.00.00130.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00037670.07.292e-050.00.00.00068720.00067290.00022150.0

ESP
AAEA
0.00.0004462
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.316678Polymorphism
DBSNP ID NA
1 combination linked to PGAM4:c.79G>A, p.Asp27Asn OLI334
1 disease linked to PGAM4:c.79G>A, p.Asp27Asn Amyotrophic lateral sclerosis
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