Variant #0000394526 (NC_000002.11:g.47610449_47639303del, MSH2(NM_000251.2):c.-19886_646-254del)
Individual ID |
00173807 |
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.47610449_47639303del |
DNA change (hg38) |
g.47383310_47412164del |
Published as |
- |
ISCN |
- |
DB-ID |
EPCAM_000062 |
Variant remarks |
28854 bp deletion +_AluY to +_AluSx |
Reference |
PubMed: Perez-Cabornero 2011 |
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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