chr16:23641202 G>A
Annotations
GenePALB2
TranscriptNM_024675.3
cDNAc.2273C>T
Proteinp.P758L
Functionmissense
Localizationexon
hg19chr16:23641202 G>A
dbSNPrs746117401
Frequency in gnomAD
GenomeExome
MAX0.00060.0000358
AFR00
AMR00
ASJ00
EAS0.00060
FIN00
NFE00.0000358
SAS–0
HGMD
IDPhenotypeEffect
CM1512722Ovarian cancerDM?