Variant #0000415854 (NC_000002.11:g.48026216ˆ48026217G>A, MSH6(NM_000179.2):c.1094ˆ1095G>A)

Individual ID 00187328
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.48026216ˆ48026217G>A
DNA change (hg38) -
Published as p.Trp365X
ISCN -
DB-ID MSH6_000934
Variant remarks identified in a glioblastoma multiforme tumour sample
Reference PubMed: Maxwell 2008
ClinVar ID -
dbSNP ID -
Origin Somatic
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Michael Woods
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 ?/. - c.1094ˆ1095G>A r.(?) p.(Trp365*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000188297 DNA ? - - MSH6 1 Michael Woods