Details for ERBB4:c.3344T>A, p.Val1115Glu

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
212251715211386990
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ERBB4
REFERENCE ALLELE A
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.3344T>A
PROTEIN CHANGE p.Val1115Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.279599Polymorphism
DBSNP ID NA
1 combination linked to ERBB4:c.3344T>A, p.Val1115Glu OLI1042
1 disease linked to ERBB4:c.3344T>A, p.Val1115Glu Primary ovarian failure
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