Variant #0000370641 (NC_000002.11:g.(?_47630206)_(47693948_47698103)del, MSH2(NM_000251.2):c.(?_-125)_(1661+1_1662-1)del)
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.(?_47630206)_(47693948_47698103)del |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
MSH2_000042 See all 6 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
|
|