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chr17:41244404 AC>A

Annotations

GeneBRCA1
TranscriptNM_007294.3
cDNAc.3143delG
Proteinp.G1048fs
Functionframeshift del
Localizationexon
hg19chr17:41244404 AC>A
dbSNPrs886040100

Synonyms

TranscriptcDNAProtein
NM_007297.3c.3002delGp.G1001fs
NM_007300.3c.3143delGp.G1048fs
NM_007298.3c.788-1356delG
NM_007299.3c.788-1356delG
NR_027676.1n.3279delG

Frequency in gnomAD

GenomeExome
MAX–0.000008987
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.000008987
SAS–0

ClinVar

IDPhenotypeEffect
RCV000257681.2Breast-ovarian cancer, familial 1Pathogenic
RCV000509795.1Hereditary cancer-predisposing syndromePathogenic

HGMD

IDPhenotypeEffect
CD129127Breast cancerDM