Variant #0000416429 (NC_000002.11:g.48010365C>T, MSH6(NM_000179.2):c.-8C>T)
Individual ID |
00187897 |
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.48010365C>T |
DNA change (hg38) |
g.47783226C>T |
Published as |
- |
ISCN |
- |
DB-ID |
MSH6_000770 See all 2 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00012 View details |
Owner |
Bert Redeker |
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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