Variant #0000371179 (NC_000002.11:g.47628578_47638433del, MSH2(NM_000251.2):c.-1753_645+922del)
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.47628578_47638433del |
DNA change (hg38) |
g.47401439_47411294del |
Published as |
- |
ISCN |
- |
DB-ID |
MSH2_001625 See all 3 reported entries |
Variant remarks |
Insight class: 5 |
Reference |
InSiGHT |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
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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