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chr16:23646192 GAATA>G

Annotations

GenePALB2
TranscriptNM_024675.3
cDNAc.1671_1674del
Proteinp.F557fs
Functionframeshift del
Localizationexon
hg19chr16:23646192 GAATA>G

Frequency in gnomAD

GenomeExome
MAX0.000009015
AFR0
AMR0
ASJ0
EAS0
FIN0
NFE0.000009015
SAS0

ClinVar

IDPhenotypeEffect
RCV000456465.1Familial cancer of breastPathogenic