Details for AVPR2:c.236G>C, p.Gly79Ala

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
153171196153905742
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE AVPR2
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_000054.4
CDNA CHANGE c.236G>C
PROTEIN CHANGE p.Gly79Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00030.00.00.00.00.0014

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
7.312e-050.00.00.00.00.00014670.00.00.0005779

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.164469Polymorphism
DBSNP ID NA
1 combination linked to AVPR2:c.236G>C, p.Gly79Ala OLI328
1 disease linked to AVPR2:c.236G>C, p.Gly79Ala Amyotrophic lateral sclerosis
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