Variant #0000080436 (NC_000016.9:g.23647638del, PALB2(NM_024675.3):c.229del)

Individual ID 00051444
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.23647638del
DNA change (hg38) g.23636317del
Published as c.229delT
ISCN -
DB-ID PALB2_010029 See all 4 reported entries
Variant remarks 1 families
Reference PubMed: Antoniou 2014
ClinVar ID ClinVar-126644
dbSNP ID rs180177084
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marc Tischkowitz
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2015-09-28 12:34:19 +02:00 (CEST)
Date last edited 2021-03-17 14:24:32 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
PALB2 NM_024675.3 +/+ 4 c.229del r.(?) p.(Cys77Valfs*100) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000051389 DNA SEQ - - PALB2 1 Marc Tischkowitz