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chr17:41215382 G>A

Annotations

GeneBRCA1
TranscriptNM_007294.3
cDNAc.5161C>T
Proteinp.Q1721X
Functionstop gain
Localizationexon
hg19chr17:41215382 G>A
dbSNPrs878854957

Synonyms

TranscriptcDNAProtein
NM_007297.3c.5020C>Tp.Q1674X
NM_007298.3c.1849C>Tp.Q617X
NM_007299.3c.1849C>Tp.Q617X
NM_007300.3c.5224C>Tp.Q1742X
NR_027676.1n.5297C>T

Frequency in gnomAD

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

ClinVar

IDPhenotypeEffect
RCV000571650.1Hereditary cancer-predisposing syndromePathogenic
RCV000256774.2Breast-ovarian cancer, familial 1Pathogenic

HGMD

IDPhenotypeEffect
CM1211123Breast and/or ovarian cancerDM