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




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