Variant #0000416421 (NC_000002.11:g.48010163C>T, MSH6(NM_000179.2):c.-210C>T)

Individual ID 00187890
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.48010163C>T
DNA change (hg38) g.47783024C>T
Published as -
ISCN -
DB-ID MSH6_000429 See all 2 reported entries
Variant remarks Functional studies indicate Inactivation of splice1 site
Reference PubMed: Gazzoli 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Michael Woods
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.-210C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000188859 DNA ? - - MSH6 1 Michael Woods