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chr17:41244016 TA>T

Annotations

GeneBRCA1
TranscriptNM_007294.3
cDNAc.3531delT
Proteinp.F1177fs
Functionframeshift del
Localizationexon
hg19chr17:41244016 TA>T
dbSNPrs80357621

Synonyms

TranscriptcDNAProtein
NM_007297.3c.3390delTp.F1130fs
NM_007300.3c.3531delTp.F1177fs
NM_007298.3c.788-968delT
NM_007299.3c.788-968delT
NR_027676.1n.3667delT

Frequency in gnomAD

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

ClinVar

IDPhenotypeEffect
RCV000497273.1not providedPathogenic
RCV000112111.3Breast-ovarian cancer, familial 1Pathogenic

HGMD

IDPhenotypeEffect
CD146309Breast cancerDM