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 |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
ICCon |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
InSiGHT - John-Paul Plazzer |

Variant on transcripts
Screenings
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