chr17:41256249 C>A
Annotations
GeneBRCA1
TranscriptNM_007294.3
cDNAc.331G>T
Proteinp.E111X
Functionstop gain
Localizationexon
hg19chr17:41256249 C>A
dbSNP
Synonyms
TranscriptcDNAProtein
NM_007297.3c.190G>Tp.E64X
NM_007298.3c.331G>Tp.E111X
NM_007299.3c.331G>Tp.E111X
NM_007300.3c.331G>Tp.E111X
NR_027676.1n.470G>T
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––