Variant #0000415553 (NC_000002.11:g.47998510_48020183del, MSH6(NM_000179.2):c.-11863_457+1921del)

Individual ID 00187056
Chromosome 2
Allele Parent #1
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.47998510_48020183del
DNA change (hg38) g.47771371_47793044del
Published as -
ISCN -
DB-ID MSH6_000002 See all 2 reported entries
Variant remarks 21.6 Kb deletion exon 1-2
Reference PubMed: van der Klift 2005
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 Carli Tops
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_2i c.-11863_457+1921del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000188025 DNA SEQ - - MSH6 2 Carli Tops