Variant #0000416393 (NC_000002.11:g.48028225C>T, NM_000179.2:c.3103C>T (MSH6))

Individual ID 00187863
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.48028225C>T
DNA change (hg38) g.47801086C>T
Published as -
ISCN -
DB-ID MSH6_000057 See all 24 reported entries
Variant remarks -
Reference PubMed: Planck 1999
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Michael Woods
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer
Date created 2005-11-17 12:00:00 +01:00 (CET)
Date last edited 2019-02-22 11:58:46 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 +/. 4 c.3103C>T r.(?) p.(Arg1035*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000188832 DNA ? - - MSH6 1 Michael Woods


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