Details for ALS2:c.1192T>C, p.Ser398Pro

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
202622404201757681
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ALS2
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_020919
CDNA CHANGE c.1192T>C
PROTEIN CHANGE p.Ser398Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.872203Polymorphism
DBSNP ID NA
1 combination linked to ALS2:c.1192T>C, p.Ser398Pro OLI955
1 disease linked to ALS2:c.1192T>C, p.Ser398Pro Amyotrophic lateral sclerosis
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