Variant #0000789147 (NC_000002.11:g.48010374T>A, MSH6(NM_000179.2):c.2T>A)
Individual ID |
00375861 |
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.48010374T>A |
DNA change (hg38) |
g.47783235T>A |
Published as |
- |
ISCN |
- |
DB-ID |
MSH6_010967 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Treena Cranston |
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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