Variant #0000789147 (NC_000002.11:g.48010374T>A, MSH6(NM_000179.2):c.2T>A)

Individual ID 00375861
Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.48010374T>A
DNA change (hg38) g.47783235T>A
Published as -
ISCN -
DB-ID MSH6_010967
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Treena Cranston
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 +?/. 1 c.2T>A r.? p.(Met1?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000377057 DNA SEQ - year test performed: 2019; 7 gene 'Lynch-like' panel includes MLH1, MSH2, MSH6 and PMS2 - 1 Treena Cranston