Variant #0000080132 (NC_000016.9:g.23641503C>A, PALB2(NM_024675.3):c.1972G>T)

Individual ID 00051141
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.23641503C>A
DNA change (hg38) g.23630182C>A
Published as -
ISCN -
DB-ID PALB2_010233
Variant remarks -
Reference PubMed: CastŽra 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site MnlI-
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 +/+ 5 c.1972G>T r.(?) p.(Glu658*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000051086 DNA SEQ - - PALB2 1 Marc Tischkowitz