Variant #0000415563 (NC_000002.11:g.48010410A>C, MSH6(NM_000179.2):c.38A>C)

Individual ID 00187067
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.48010410A>C
DNA change (hg38) g.47783271A>C
Published as K13T
ISCN -
DB-ID MSH6_000033 See all 5 reported entries
Variant remarks 0/1104 controls
Reference PubMed: Barnetson 2008
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.38A>C r.(?) p.(Lys13Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000188036 DNA ? - - MSH6 1 Michael Woods