Variant #0000368744 (NC_000002.11:g.47600664C>T, NM_002354.2:c.139C>T (EPCAM))

Individual ID 00164260
Chromosome 2
Allele Parent #1
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.47600664C>T
DNA change (hg38) g.47373525C>T
Published as -
ISCN -
DB-ID EPCAM_000040 See all 6 reported entries
Variant remarks unknown variant 2nd allele
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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2018-05-04 20:07:16 +02:00 (CEST)
Date last edited 2018-05-11 16:21:35 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPCAM NM_002354.2 +/. 2 c.139C>T r.(?) p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165127 DNA SEQ - - EPCAM 1 Mamata Sivagnanam


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