chr17:59937230 CAACA>C
Annotations
GeneBRIP1
TranscriptNM_032043.2
cDNAc.128_131del
Proteinp.L43fs
Functionframeshift del
Localizationexon
hg19chr17:59937230 CAACA>C
dbSNPrs1064794202
Frequency in gnomAD
GenomeExome
MAX–0.000008956
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.000008956
SAS–0
ClinVar
IDPhenotypeEffect
HGMD
IDPhenotypeEffect
CD1512659Ovarian cancerDM