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chr17:41243917 ACT>A

Annotations

GeneBRCA1
TranscriptNM_007294.3
cDNAc.3629_3630del
Proteinp.E1210fs
Functionframeshift del
Localizationexon
hg19chr17:41243917 ACT>A
dbSNPrs80357589

Synonyms

TranscriptcDNAProtein
NM_007297.3c.3488_3489delp.E1163fs
NM_007300.3c.3629_3630delp.E1210fs
NM_007298.3c.788-870_788-869delAG
NM_007299.3c.788-870_788-869delAG
NR_027676.1n.3765_3766delAG

Frequency in gnomAD

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

ClinVar

IDPhenotypeEffect
RCV000112141.2Breast-ovarian cancer, familial 1Pathogenic

HGMD

IDPhenotypeEffect
CD003506Breast and/or ovarian cancerDM