Variant #0000286673 (NC_000002.11:g.48010445G>T, MSH6(NM_000179.2):c.73G>T)
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.48010445G>T |
DNA change (hg38) |
g.47783306G>T |
Published as |
MSH6(NM_000179.2):c.73G>T (p.A25S), MSH6(NM_000179.3):c.73G>T (p.A25S) |
ISCN |
- |
DB-ID |
MSH6_000615 See all 18 reported entries |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00013 View details |
Owner |
VKGL-NL_Utrecht |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Utrecht |

Variant on transcripts
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