chr17:41201183 AC>A
Annotations
GeneBRCA1
TranscriptNM_007294.4
cDNAc.5360del
Proteinp.Cys1787Leufs*6
Functionframeshift
Localizationexon
hg19chr17:41201183 AC>A
dbSNP
Synonyms
TranscriptcDNAProtein
NM_007300.4c.5423delp.Cys1808Leufs*6
NM_007298.3c.2048delGp.C683fs
NM_007297.3c.5219delGp.C1740fs
NM_007299.3c.2021-1464delG
NR_027676.1n.5496delG
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––