Details for LARS2:c.1021T>G, p.Cys341Gly

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
4552718645485694
VARIANT EFFECT None
ANNOTATION FLAG None
GENE LARS2
REFERENCE ALLELE T
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.1021T>G
PROTEIN CHANGE p.Cys341Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.216643Polymorphism
DBSNP ID NA
1 combination linked to LARS2:c.1021T>G, p.Cys341Gly OLI1039
1 disease linked to LARS2:c.1021T>G, p.Cys341Gly Primary ovarian failure

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