Details for SIGMAR1:c.125T>G, p.Ile42Arg

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
3463757034637573
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SIGMAR1
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT NM_001282205.1
CDNA CHANGE c.125T>G
PROTEIN CHANGE p.Ile42Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.765405Polymorphism
DBSNP ID rs1206984068
1 combination linked to SIGMAR1:c.125T>G, p.Ile42Arg OLI824
1 disease linked to SIGMAR1:c.125T>G, p.Ile42Arg Amyotrophic lateral sclerosis
Found any issues with the data on this page? Report this entry.