Variant #0000371107 (NC_000002.11:g.47630516_47630517dup, MSH2(NM_000251.2):c.186_187dup)
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.47630516_47630517dup |
DNA change (hg38) |
g.47403377_47403378dup |
Published as |
- |
ISCN |
- |
DB-ID |
MSH2_000145 See all 5 reported entries |
Variant remarks |
Insight class: 5 |
Reference |
InSiGHT |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
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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