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chr17:41209079 T>TG

Annotations

GeneBRCA1
TranscriptNM_007294.3
cDNAc.5266dupC
Proteinp.Q1756fs
Functionframeshift ins
Localizationexon
hg19chr17:41209079 T>TG
dbSNPrs80357906

Synonyms

TranscriptcDNAProtein
NR_027676.1n.5402dupC
NM_007297.3c.5125dupCp.Q1709fs
NM_007298.3c.1954dupCp.Q652fs
NM_007299.3c.1954dupCp.Q652fs
NM_007300.3c.5329dupCp.Q1777fs

Frequency in gnomAD

GenomeExome
MAX0.00040.0001
AFR00
AMR00.00002978
ASJ00.0023
EAS00
FIN00
NFE0.00040.0001
SAS–0

ClinVar

IDPhenotypeEffect
RCV000495973.1Porokeratosis punctata palmaris et plantarisPathogenic
RCV000019246.20Breast-ovarian cancer, familial 1Pathogenic
RCV000019247.4Pancreatic cancer, susceptibility toRisk factor
RCV000119097.14Hereditary breast and ovarian cancer syndromePathogenic
RCV000412924.1Neoplasm of the breastPathogenic
RCV000056287.8Familial cancer of breastPathogenic
RCV000131328.5Hereditary cancer-predisposing syndromePathogenic
RCV000258962.4not Pathogenic
RCV000415060.1Pathogenic

HGMD

IDPhenotypeEffect
CI941841Breast cancerDM