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chr17:41226471 G>A

Annotations

GeneBRCA1
TranscriptNM_007294.3
cDNAc.4552C>T
Proteinp.Q1518X
Functionstop gain
Localizationexon
hg19chr17:41226471 G>A
dbSNPrs80356881

Synonyms

TranscriptcDNAProtein
NM_007297.3c.4411C>Tp.Q1471X
NM_007298.3c.1240C>Tp.Q414X
NM_007299.3c.1240C>Tp.Q414X
NM_007300.3c.4615C>Tp.Q1539X
NR_027676.1n.4688C>T

Frequency in gnomAD

GenomeExome
MAX–0
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0
SAS–0

ClinVar

IDPhenotypeEffect
RCV000112357.2Breast-ovarian cancer, familial 1Pathogenic

HGMD

IDPhenotypeEffect
CM1312389Breast and/or ovarian cancerDM