chr16:23637699 G>C
Annotations
GenePALB2
TranscriptNM_024675.3
cDNAc.2606C>G
Proteinp.S869C
Functionmissense
Localizationexon
hg19chr16:23637699 G>C
dbSNPrs779279139
Frequency in gnomAD
GenomeExome
MAX–0.000008951
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0.00004484
NFE–0.000008951
SAS–0
HGMD
IDPhenotypeEffect
CM1512724Ovarian cancerDM?