Variant #0000080255 (NC_000016.9:g.23619212del, PALB2(NM_024675.3):c.3323del)

Individual ID 00051263
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.23619212del
DNA change (hg38) g.23607891del
Published as c.3323delA
ISCN -
DB-ID PALB2_000012 See all 6 reported entries
Variant remarks -
Reference PubMed: Reid 2007
ClinVar ID ClinVar-126734
dbSNP ID rs180177135
Origin Germline
Segregation -
Frequency -
Re-site CviQI-, HpyCH4III-, RsaI-
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 +/+ 12 c.3323del r.(?) p.(Tyr1108Serfs*16) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000051208 DNA ? - - PALB2 1 Marc Tischkowitz