Variant #0000079969 (NC_000016.9:g.23646278del, PALB2(NM_024675.3):c.1592del)

Individual ID 00050978
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.23646278del
DNA change (hg38) g.23634957del
Published as -
ISCN -
DB-ID PALB2_010077 See all 10 reported entries
Variant remarks -
Reference PubMed: Tischkowitz2012
ClinVar ID ClinVar-126609
dbSNP ID rs180177102
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Marc Tischkowitz
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Marc Tischkowitz
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
PALB2 NM_024675.3 +/+ 4 c.1592del r.(?) p.(Leu531Cysfs*30) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050923 DNA MCA - - PALB2 1 Marc Tischkowitz