Variant #0000394480 (NC_000002.11:g.?, EPCAM(NM_002354.2):c.?)
Individual ID |
00173761 |
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.? |
DNA change (hg38) |
g.? |
Published as |
- |
ISCN |
- |
DB-ID |
EPCAM_000000 See all 9 reported entries |
Variant remarks |
- |
Reference |
PubMed: Huth 2012 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
Owner |
Mamata Sivagnanam |
Database submission license |
No license selected |
Created by |
Mamata Sivagnanam |
Variant on transcripts
Screenings
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