Genomic variant #0000034745

Individual ID 00017931
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.47606092T>C
Reference -
DB-ID EPCAM_000045
dbSNP ID rs1280024892
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00035
Allele Count 2
Allele Number 5754
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPCAM NM_002354.2 ?/? - c.556T>C r.(?) p.(Tyr186His)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002081 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou