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chr17:41245586 CT>C

Annotations

GeneBRCA1
TranscriptNM_007294.3
cDNAc.1961delA
Proteinp.K654fs
Functionframeshift del
Localizationexon
hg19chr17:41245586 CT>C
dbSNPrs80357522

Synonyms

TranscriptcDNAProtein
NM_007297.3c.1820delAp.K607fs
NM_007300.3c.1961delAp.K654fs
NM_007298.3c.787+1174delA
NM_007299.3c.787+1174delA
NR_027676.1n.2097delA

Frequency in gnomAD

GenomeExome
MAX0.000066730
AFR00
AMR00
ASJ00
EAS00
FIN00
NFE0.000066730
SAS–0

ClinVar

IDPhenotypeEffect
RCV000414241.1Neoplasm of the breastPathogenic
RCV000130764.5Hereditary cancer-predisposing syndromePathogenic
RCV000031019.10Breast-ovarian cancer, familial 1Pathogenic
RCV000047660.9Hereditary breast and ovarian cancer syndromeConflicting interpretations of pathogenicity
RCV000677808.1Infiltrating duct carcinoma of breastPathogenic
RCV000236783.5not providedPathogenic

HGMD

IDPhenotypeEffect
CD951610Breast cancerDM