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chr17:41246037 CG>C

Annotations

GeneBRCA1
TranscriptNM_007294.3
cDNAc.1510delC
Proteinp.R504fs
Functionframeshift del
Localizationexon
hg19chr17:41246037 CG>C
dbSNPrs80357908

Synonyms

TranscriptcDNAProtein
NM_007297.3c.1369delCp.R457fs
NM_007300.3c.1510delCp.R504fs
NM_007298.3c.787+723delC
NM_007299.3c.787+723delC
NR_027676.1n.1646delC

Frequency in gnomAD

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

ClinVar

IDPhenotypeEffect
RCV000030999.6Breast-ovarian cancer, familial 1Pathogenic
RCV000496881.3Hereditary breast and ovarian cancer syndromePathogenic
RCV000130024.3Hereditary cancer-predisposing syndromePathogenic

HGMD

IDPhenotypeEffect
CD082060Breast and/or ovarian cancerDM