Variant #0000695018 (NC_000016.9:g.23647179C>A, PALB2(NM_024675.3):c.688G>T)

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.23647179C>A
DNA change (hg38) g.23635858C>A
Published as -
ISCN -
DB-ID PALB2_010321 See all 2 reported entries
Variant remarks expression cloning HR efficiency 7,42%, PARPi resistance 17,50%
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.688G>T - p.(Glu230*) -