Variant #0000044633 (NC_000016.9:g.23625411del, PALB2(NM_024675.3):c.3116del)

Individual ID 00022369
Chromosome 16
Allele Parent #1
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.23625411del
DNA change (hg38) g.23614090del
Published as -
ISCN -
DB-ID PALB2_000014 See all 10 reported entries
Variant remarks -
Reference PubMed: Reid 2007
ClinVar ID ClinVar-126715
dbSNP ID rs180177133
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Arleen D. Auerbach
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
PALB2 NM_024675.3 +/+ 11 c.3116del r.(?) p.(Asn1039Ilefs*2) FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000022367 DNA SEQ - - PALB2 2 Arleen D. Auerbach