Variant #0000417690 (NC_000002.11:g.48010410A>C, MSH6(NM_000179.2):c.38A>C)
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
NA |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.48010410A>C |
DNA change (hg38) |
g.47783271A>C |
Published as |
K13T |
ISCN |
- |
DB-ID |
MSH6_000033 See all 5 reported entries |
Variant remarks |
SIFT score intolerant |
Reference |
PubMed: Barnetson 2008 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
In silico |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Rolf Sijmons |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
InSiGHT - John-Paul Plazzer |

Variant on transcripts
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