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chr16:23625398 C>G

Annotations

GenePALB2
TranscriptNM_024675.3
cDNAc.3128G>C
Proteinp.G1043A
Functionmissense
Localizationexon
hg19chr16:23625398 C>G
dbSNPrs377713277

Frequency in gnomAD

GenomeExome
MAX–0.00004488
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00004488
SAS–0

ClinVar

IDPhenotypeEffect
RCV000131630.5Hereditary cancer-predisposing syndromeVUS
RCV000114598.2Familial cancer of breastVUS
RCV000485289.1not providedVUS

HGMD

IDPhenotypeEffect
CM113829Breast and/or pancreatic cancerDM?