Details for MSH5:c.1051C>G, p.Arg351Gly

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
3172597831758201
VARIANT EFFECT None
ANNOTATION FLAG None
GENE MSH5
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_002441.4
CDNA CHANGE c.1051C>G
PROTEIN CHANGE p.Arg351Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.01480.00150.00580.0060.02290.0399

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.014740.0026490.0060320.010230.0032830.0033750.016460.013010.04116

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.498425Polymorphism
DBSNP ID NA
1 combination linked to MSH5:c.1051C>G, p.Arg351Gly OLI1730
1 disease linked to MSH5:c.1051C>G, p.Arg351Gly Primary ovarian failure
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