chr17:41245261 ATC>A
Annotations
GeneBRCA1
TranscriptNM_007294.3
cDNAc.2285_2286del
Proteinp.R762fs
Functionframeshift del
Localizationexon
hg19chr17:41245261 ATC>A
dbSNP
Synonyms
TranscriptcDNAProtein
NM_007299.3c.787+1498_787+1499delGA
NR_027676.1n.2421_2422delGA
NM_007298.3c.787+1498_787+1499delGA
NM_007297.3c.2144_2145delp.R715fs
NM_007300.3c.2285_2286delp.R762fs
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––
HGMD
IDPhenotypeEffect
CD1714972Breast and/or ovarian cancerDM