Variant #0000394537 (NC_000002.11:g.(?_47596644)_(47639700_47641407)del, MSH2(NM_000251.2):c.-33687_-16578del)
Individual ID |
00173818 |
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_47596644)_(47639700_47641407)del |
DNA change (hg38) |
g.(?_47369505)_(47412561_47414268)del |
Published as |
- |
ISCN |
- |
DB-ID |
EPCAM_000064 |
Variant remarks |
56290 bp deletion |
Reference |
PubMed: Villacis 2017 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Mamata Sivagnanam |
Database submission license |
No license selected |
Created by |
Mamata Sivagnanam |

Variant on transcripts
Screenings
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