Variant #0001016648 (NC_000002.11:g.?, NM_002354.2:c.? (EPCAM))
Individual ID |
00457362 |
Chromosome |
2 |
Allele |
Unknown |
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.? |
DNA change (hg38) |
- |
Published as |
NM_002354.2:c.(412+1_413-1)_(536+1_537-1)del |
ISCN |
- |
DB-ID |
SNRNP200_000007 See all 182 reported entries |
Variant remarks |
- |
Reference |
Yuen (unpublished) |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
Owner |
Jeanette Yuen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2024-10-10 14:37:00 +02:00 (CEST) |
Date last edited |
2024-11-08 14:16:36 +01:00 (CET) |
Variant on transcripts
Screenings
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