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HomeVariants

chr17:41197774 A>T

Annotations

GeneBRCA1
TranscriptNM_007294.3
cDNAc.5513T>A
Proteinp.V1838E
Functionmissense
Localizationexon
hg19chr17:41197774 A>T

Synonyms

TranscriptcDNAProtein
NM_007297.3c.5372T>Ap.V1791E
NM_007298.3c.2201T>Ap.V734E
NM_007300.3c.5576T>Ap.V1859E
NM_007299.3c.*27T>A
NR_027676.1n.5649T>A

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

ClinVar

IDPhenotypeEffect
RCV000077628.4Breast-ovarian cancer, familial 1Pathogenic
RCV000480633.1not providedPathogenic

HGMD

IDPhenotypeEffect
CM086011Breast cancerDM