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chr16:23641218 G>A

Annotations

GenePALB2
TranscriptNM_024675.3
cDNAc.2257C>T
Proteinp.R753X
Functionstop gain
Localizationexon
hg19chr16:23641218 G>A
dbSNPrs180177110

Frequency in gnomAD

GenomeExome
MAX–0.00004476
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00004476
SAS–0

ClinVar

IDPhenotypeEffect
RCV000131502.5Hereditary cancer-predisposing syndromePathogenic
RCV000466579.5Familial cancer of breastPathogenic
RCV000236519.2not providedPathogenic

HGMD

IDPhenotypeEffect
CM070237Fanconi anaemia, N typeDM