Details for ERBB3:c.2269dupA, p.Thr757AsnfsTer70

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
5649062556096841
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ERBB3
REFERENCE ALLELE A
ALTERNATE ALLELE AA
TRANSCRIPT N.A.
CDNA CHANGE c.2269dupA
PROTEIN CHANGE p.Thr757AsnfsTer70
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.131057Disease causing
DBSNP ID NA
1 combination linked to ERBB3:c.2269dupA, p.Thr757AsnfsTer70 OLI1055
1 disease linked to ERBB3:c.2269dupA, p.Thr757AsnfsTer70 Primary ovarian failure
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