Variant #0000673622 (NC_000002.11:g.47600621C>A, EPCAM(NM_002354.2):c.96C>A)

Individual ID 00305944
Chromosome 2
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.47600621C>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID EPCAM_000094
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Sha Hong
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Sha Hong
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPCAM NM_002354.2 +?/. - c.96C>A r.(?) p.(Tyr32*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000307075 DNA SEQ-NG - - EPCAM 2 Sha Hong