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chr16:23625361 G>T

Annotations

GenePALB2
TranscriptNM_024675.3
cDNAc.3165C>A
Proteinp.Y1055X
Functionstop gain
Localizationexon
hg19chr16:23625361 G>T

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

ClinVar

IDPhenotypeEffect
RCV000222632.1Hereditary cancer-predisposing syndromePathogenic

HGMD

IDPhenotypeEffect
CM1610913Breast and/or ovarian cancerDM