Genomic variant #0000368813

Individual ID 00164258
Chromosome 2
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47602372G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID EPCAM_000035 See all 2 reported entries
Variant remarks -
Reference Shakhnovic 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00015 View details
Owner Mamata Sivagnanam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
EPCAM NM_002354.2 +/. 3i c.426-1G>A pathogenic r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165125 DNA SEQ - - EPCAM 2 Mamata Sivagnanam