chr17:41246531 C>CT
Annotations
GeneBRCA1
TranscriptNM_007294.3
cDNAc.1016dupA
Proteinp.K339fs
Functionframeshift ins
Localizationexon
hg19chr17:41246531 C>CT
dbSNPrs80357569
Synonyms
TranscriptcDNAProtein
NM_007297.3c.875dupAp.K292fs
NM_007300.3c.1016dupAp.K339fs
NM_007298.3c.787+229dupA
NM_007299.3c.787+229dupA
NR_027676.1n.1152dupA
Frequency in gnomAD
GenomeExome
MAX–0
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0
SAS–0
HGMD
IDPhenotypeEffect
CI941840Breast cancerDM