Variant #0000417440 (NC_000002.11:g.(?_48010221)_(48010633_48018065)del, MSH6(NM_000179.2):c.(?_-152)_(260+1_261-1)del)

Individual ID 00201415
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.(?_48010221)_(48010633_48018065)del
DNA change (hg38) -
Published as (?_-152)_260+?del/Del exon 1
ISCN -
DB-ID MSH6_000174 See all 3 reported entries
Variant remarks -
Reference -
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 Thomas Hansen
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_1i c.(?_-152)_(260+1_261-1)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000202445 DNA SEQ - - MLH1, MSH2, MSH6, PMS2 1 Thomas Hansen