Variant #0000416991 (NC_000002.11:g.(?_48010373)_(48032167_48032756)del, MSH6(NM_000179.2):c.(?_-1)_(3556+1_3557-1)del)

Individual ID 00188724
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.(?_48010373)_(48032167_48032756)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID MSH6_000084 See all 2 reported entries
Variant remarks Submitted by ICCon – South Australia
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 ICCon
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH6 NM_000179.2 +/. _1_6i c.(?_-1)_(3556+1_3557-1)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189693 DNA SEQ - - MSH6 1 ICCon