Genomic variant #0000598595

Individual ID 00266395
Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47601106T>C
DNA change (hg38) g.47373967T>C
Published as -
ISCN -
DB-ID EPCAM_000014 See all 6 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.56674 View details
Owner Carlos Vaccaro
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
EPCAM NM_002354.2 -/. - c.344T>C benign r.(?) p.(Met115Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000267522 DNA SEQ-NG - - EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2 21 Carlos Vaccaro