Variant #0000415561 (NC_000002.11:g.(?_48010221)_(48018263_48023032)del, MSH6(NM_000179.2):c.(?_-152)_(457+1_458-1)del)

Individual ID 00187064
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)_(48018263_48023032)del
DNA change (hg38) -
Published as MSH6:(?_-152)_457+?del breakpoint not tested
ISCN -
DB-ID MSH6_000001 See all 5 reported entries
Variant remarks -
Reference Daniela Barana
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 INSiGHT group
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 +/. _1_2i c.(?_-152)_(457+1_458-1)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000188033 DNA SEQ - - MSH6 1 INSiGHT group