Details for SOD1:c.125G>A, p.Gly42Asp

CHROMOSOME 21
GENOMIC COORDINATES
hg19hg38
3303615531663842
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SOD1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000454
CDNA CHANGE c.125G>A
PROTEIN CHANGE p.Gly42Asp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.314141Disease causing
DBSNP ID NA
1 combination linked to SOD1:c.125G>A, p.Gly42Asp OLI940
1 disease linked to SOD1:c.125G>A, p.Gly42Asp Amyotrophic lateral sclerosis
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