chr17:41246073 ATC>A
Annotations
GeneBRCA1
TranscriptNM_007294.3
cDNAc.1473_1474del
Proteinp.Q491fs
Functionframeshift del
Localizationexon
hg19chr17:41246073 ATC>A
dbSNP
Synonyms
TranscriptcDNAProtein
NM_007298.3c.787+686_787+687delGA
NM_007299.3c.787+686_787+687delGA
NR_027676.1n.1609_1610delGA
NM_007300.3c.1473_1474delp.Q491fs
NM_007297.3c.1332_1333delp.Q444fs
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––