Variant #0000081449 (NC_000016.9:g.23640966C>A, NM_024675.3:c.2509G>T (PALB2))

Individual ID 00052061
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.23640966C>A
DNA change (hg38) g.23629645C>A
Published as -
ISCN -
DB-ID PALB2_010316
Variant remarks -
Reference PubMed: Zhen 2015
ClinVar ID -
dbSNP ID rs587778587
Origin Unknown
Segregation -
Frequency -
Re-site Hpy99I-, TaqI-
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marc Tischkowitz
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2015-10-15 16:11:17 +02:00 (CEST)
Date last edited 2019-05-13 08:38:57 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
PALB2 NM_024675.3 +/+ 5 c.2509G>T r.(?) p.(Glu837*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052009 DNA SEQ - - PALB2 1 Marc Tischkowitz


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