Variant #0000741525 (NC_000016.9:g.23625398C>G, PALB2(NM_024675.3):c.3128G>C)

Individual ID 00340664
Chromosome 16
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.23625398C>G
DNA change (hg38) -
Published as chr16_23625398_C_G
ISCN -
DB-ID PALB2_010151 See all 6 reported entries
Variant remarks not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
Reference PubMed: Dorling 2021, Journal: Dorling 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/53461 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner BRIDGES consortium
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.3128G>C r.(?) p.(Gly1043Ala) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000341894 DNA SEQ-NG - 34-gene panel PALB2 1 BRIDGES consortium