chr17:59858343 G>T
Annotations
GeneBRIP1
TranscriptNM_032043.2
cDNAc.1652C>A
Proteinp.A551E
Functionmissense
Localizationexon
hg19chr17:59858343 G>T
dbSNPrs375246789
Frequency in gnomAD
GenomeExome
MAX0.000066620.000008956
AFR00
AMR00
ASJ00
EAS00
FIN00
NFE0.000066620.000008956
SAS–0
ClinVar
IDPhenotypeEffect
HGMD
IDPhenotypeEffect
CM1516500Breast cancerDM?