Variant #0000415560 (NC_000002.11:g.(?_48010221)_(48018263_48023032)del, MSH6(NM_000179.2):c.(?_-152)_(457+1_458-1)del)

Individual ID 00187063
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 1-?_457+?del
ISCN -
DB-ID MSH6_000001 See all 5 reported entries
Variant remarks deletion of 21.6 kb around exon 1+2, in cis with c.2008G>A,p.Gly670Arg
Reference Carli Tops
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     
0000188032 DNA SEQ - - MSH6 1 INSiGHT group