Variant #0000595711 (NC_000016.9:g.23632683C>T, PALB2(NM_024675.3):c.3113G>A)

Individual ID 00264004
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.23632683C>T
DNA change (hg38) g.23621362C>T
Published as -
ISCN -
DB-ID PALB2_010150 See all 21 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 6.0E-5 View details
Owner James Whitworth
Database submission license No license selected
Created by James Whitworth
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
PALB2 NM_024675.3 ?/. - c.3113G>A r.(?) p.(Trp1038*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000265133 DNA SEQ-NG-I - - - 1 James Whitworth