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Reference Yuen (unpublished)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 InternationalCreative Commons License
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


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPCAM NM_002354.2 +/. - c.? r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000458982 DNA SEQ-NG - - - 2 Jeanette Yuen


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