Variant #0000695013 (NC_000016.9:g.23637661_23637664dup, PALB2(NM_024675.3):c.2642_2645dup)

Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.23637661_23637664dup
DNA change (hg38) g.23626340_23626343dup
Published as -
ISCN -
DB-ID PALB2_010697
Variant remarks expression cloning HR efficiency 6,10%, PARPi resistance 29,04%
Reference PubMed: Boonen 2019
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
PALB2 NM_024675.3 +/. - c.2642_2645dup - p.(Cys882Trpfs*3) -