Details for SOD1:c.112G>A, p.Gly38Arg

CHROMOSOME 21
GENOMIC COORDINATES
hg19hg38
3303614231663829
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SOD1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000454.4
CDNA CHANGE c.112G>A
PROTEIN CHANGE p.Gly38Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.349193Disease causing
DBSNP ID rs121912431
1 combination linked to SOD1:c.112G>A, p.Gly38Arg OLI280
1 disease linked to SOD1:c.112G>A, p.Gly38Arg Amyotrophic lateral sclerosis
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