Genomic variant #0000368743

Individual ID 00164259
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47600989C>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID EPCAM_000039 See all 3 reported entries
Variant remarks -
Reference Theoni 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Mamata Sivagnanam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
EPCAM NM_002354.2 +/. 3 c.227C>G pathogenic r.(?) p.(Ser76*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165126 DNA SEQ - - EPCAM 1 Mamata Sivagnanam