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chr16:23646627 G>A

Annotations

GenePALB2
TranscriptNM_024675.3
cDNAc.1240C>T
Proteinp.R414X
Functionstop gain
Localizationexon
hg19chr16:23646627 G>A
dbSNPrs180177100

Frequency in gnomAD

GenomeExome
MAX–0.00002979
AFR–0
AMR–0.00002979
ASJ–0
EAS–0
FIN–0
NFE–0.000008977
SAS–0

ClinVar

IDPhenotypeEffect
RCV000515305.1Pathogenic
RCV000254674.3not providedPathogenic
RCV000588541.1Hereditary breast and ovarian cancer syndromePathogenic
RCV000123331.8Familial cancer of breastPathogenic
RCV000116064.9Hereditary cancer-predisposing syndromePathogenic

HGMD

IDPhenotypeEffect
CM106645Pancreatic cancerDM