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chr17:41244056 ACTAGTATCTTC>A

Annotations

GeneBRCA1
TranscriptNM_007294.3
cDNAc.3481_3491del
Proteinp.E1161fs
Functionframeshift del
Localizationexon
hg19chr17:41244056 ACTAGTATCTTC>A
dbSNPrs80357877

Synonyms

TranscriptcDNAProtein
NM_007297.3c.3340_3350delp.E1114fs
NM_007300.3c.3481_3491delp.E1161fs
NM_007298.3c.788-1018_788-1008delGAAGATACTAG
NM_007299.3c.788-1018_788-1008delGAAGATACTAG
NR_027676.1n.3617_3627delGAAGATACTAG

Frequency in gnomAD

GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––

ClinVar

IDPhenotypeEffect
RCV000131815.5Hereditary cancer-predisposing syndromePathogenic
RCV000048211.9Hereditary breast and ovarian cancer syndromePathogenic
RCV000159917.5not providedPathogenic
RCV000019254.17Breast-ovarian cancer, familial 1Pathogenic

HGMD

IDPhenotypeEffect
CD951618Breast cancerDM