Variant #0000368781 (NC_000002.11:g.(?_47596644)_(47607109_47612304)del, EPCAM(NM_002354.2):c.(?_-1)_(858+1_859-1)del)
Individual ID |
00164297 |
Chromosome |
2 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_47596644)_(47607109_47612304)del |
DNA change (hg38) |
- |
Published as |
del Ex1-7 |
ISCN |
- |
DB-ID |
EPCAM_000032 |
Variant remarks |
- |
Reference |
Salomon 2014 |
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 |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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