Variant #0000394537 (NC_000002.11:g.(?_47583963)_(47640253_47641407)del, NC_000002.11(NM_000251.2):c.(?_-46368)_(792+554_793-1)del (MSH2))
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.(?_47583963)_(47640253_47641407)del |
DNA change (hg38) |
g.(?_47356824)_(47413114_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 |
Date created |
2018-08-02 09:27:57 +02:00 (CEST) |
Date last edited |
2025-01-24 09:38:19 +01:00 (CET) |

Variant on transcripts
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