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chr16:23646274 CA>C

Annotations

GenePALB2
TranscriptNM_024675.3
cDNAc.1592delT
Proteinp.L531fs
Functionframeshift del
Localizationexon
hg19chr16:23646274 CA>C
dbSNPrs180177102

Frequency in gnomAD

GenomeExome
MAX00.000008951
AFR00
AMR00
ASJ00
EAS00
FIN0.00090.0019
NFE00.000008951
SAS–0

ClinVar

IDPhenotypeEffect
RCV000212797.3not providedPathogenic
RCV000114482.5Familial cancer of breastPathogenic
RCV000001310.2Breast cancer, susceptibility toRisk factor
RCV000132474.5Hereditary cancer-predisposing syndromePathogenic

HGMD

IDPhenotypeEffect
CD071380Breast cancerDM