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chr16:23647356 ATC>A

Annotations

GenePALB2
TranscriptNM_024675.3
cDNAc.509_510del
Proteinp.R170fs
Functionframeshift del
Localizationexon
hg19chr16:23647356 ATC>A
dbSNPrs515726123

Frequency in gnomAD

GenomeExome
MAX–0.00007164
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00007164
SAS–0

ClinVar

IDPhenotypeEffect
RCV000130658.9Hereditary cancer-predisposing syndromePathogenic
RCV000114645.8Familial cancer of breastPathogenic
RCV000212776.4not providedPathogenic
RCV000363454.1PALB2-Related DisordersPathogenic
RCV000114646.1Pancreatic cancer 3Pathogenic

HGMD

IDPhenotypeEffect
CD100767Breast cancerDM