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




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