Details for PSMD2:c.952A>G, p.Thr318Ala

CHROMOSOME 3
GENOMIC COORDINATES
hg19hg38
184020555184302767
VARIANT EFFECT None
ANNOTATION FLAG None
GENE PSMD2
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.952A>G
PROTEIN CHANGE p.Thr318Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.092866Polymorphism
DBSNP ID NA
1 combination linked to PSMD2:c.952A>G, p.Thr318Ala OLI1491
1 disease linked to PSMD2:c.952A>G, p.Thr318Ala Congenital hypothyroidism
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