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chr17:41251880 ACT>A

Annotations

GeneBRCA1
TranscriptNM_007294.3
cDNAc.457_458del
Proteinp.S153fs
Functionframeshift del
Localizationexon
hg19chr17:41251880 ACT>A
dbSNPrs397509185

Synonyms

TranscriptcDNAProtein
NM_007297.3c.316_317delp.S106fs
NM_007298.3c.457_458delp.S153fs
NM_007299.3c.457_458delp.S153fs
NM_007300.3c.457_458delp.S153fs
NR_027676.1n.593_594delAG

Frequency in gnomAD

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

ClinVar

IDPhenotypeEffect
RCV000576988.1Familial cancer of breastNot provided
RCV000660985.1Breast-ovarian cancer, familial 1Pathogenic

HGMD

IDPhenotypeEffect
CD110361Breast and/or ovarian cancerDM