Variant #0000356988 (NC_000002.11:g.48010431C>T, MSH6(NM_000179.2):c.59C>T)
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Probably does not affect function |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.48010431C>T |
DNA change (hg38) |
g.47783292C>T |
Published as |
- |
ISCN |
- |
DB-ID |
MSH6_000591 See all 13 reported entries |
Variant remarks |
Insight class: 2 |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
9.0E-5 View details |
Owner |
InSiGHT - John-Paul Plazzer |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |

Variant on transcripts
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