Genomic variant #0000368826

Individual ID 00164310
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.47601029G>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID EPCAM_000012 See all 2 reported entries
Variant remarks -
Reference Sivagnanam, submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00431 View details
Owner Mamata Sivagnanam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
EPCAM NM_002354.2 +/. 3 c.267G>C pathogenic r.(?) p.(Gln89His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165177 DNA SEQ - - EPCAM 2 Mamata Sivagnanam