Variant #0000415562 (NC_000002.11:g.?, MSH6(NM_000179.2):c.(?_-1)_(645+1_646-1)del)

Individual ID 00187065
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.?
DNA change (hg38) -
Published as 1?_645+?del
ISCN -
DB-ID MSH6_000893
Variant remarks Submitter has reported the nomenclature for deletion of MSH2 exon 1 to 3 not MSH6
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner José Luis Soto
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 +/. _1_3i c.(?_-1)_(645+1_646-1)del r.? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000188034 DNA MLPA - - MSH6 1 José Luis Soto