Variant #0000080394 (NC_000016.9:g.23625411del, PALB2(NM_024675.3):c.3116del)

Individual ID 00051402
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.23625411del
DNA change (hg38) g.23614090del
Published as c.3116delA
ISCN -
DB-ID PALB2_000014 See all 10 reported entries
Variant remarks -
Reference PubMed: Reid 2007; contributed by Fanconi Anemia database
ClinVar ID ClinVar-126715
dbSNP ID rs180177133
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Global Variome, with Curator vacancy
Database submission license No license selected
Created by Thomas Hansen
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) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000051347 DNA SEQ - - PALB2 1 Global Variome, with Curator vacancy