Details for BRCA1:c.2681_2682delAA, p.Lys894ThrfsTer8

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
4124486543092848
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BRCA1
REFERENCE ALLELE GTT
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.2681_2682delAA
PROTEIN CHANGE p.Lys894ThrfsTer8
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.901173Disease causing
DBSNP ID NA
1 combination linked to BRCA1:c.2681_2682delAA, p.Lys894ThrfsTer8 OLI1696
1 disease linked to BRCA1:c.2681_2682delAA, p.Lys894ThrfsTer8 Colorectal cancer
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