Variant #0000754843 (NC_000016.9:g.23625411del, PALB2(NM_024675.3):c.3116del)

Individual ID 00353982
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.23625411del
DNA change (hg38) -
Published as chr16_23625409_AT_A
ISCN -
DB-ID PALB2_000014 See all 10 reported entries
Variant remarks 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 4/53461 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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     

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DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
PALB2 NM_024675.3 ?/. - c.3116del r.(?) p.(Asn1039Ilefs*2) -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000355212 DNA SEQ-NG - 34-gene panel PALB2 1 BRIDGES consortium