Variant #0000081480 (NC_000016.9:g.23614980del, PALB2(NM_024675.3):c.3362del)

Individual ID 00052092
Chromosome 16
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.23614980del
DNA change (hg38) g.23603659del
Published as c.3361delG
ISCN -
DB-ID PALB2_010208 See all 6 reported entries
Variant remarks -
Reference PubMed: Couch 2015
ClinVar ID ClinVar-126739
dbSNP ID rs515726117
Origin Unknown
Segregation -
Frequency -
Re-site HphI-, HpyAV-
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 Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
PALB2 NM_024675.3 +?/+ 13 c.3362del r.(?) p.(Gly1121Valfs*3) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052040 DNA SEQ - - PALB2 1 Marc Tischkowitz