Genomic variant #0000033158

Individual ID 00017838
Chromosome 2
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.47607081A>G
Reference -
DB-ID EPCAM_000002 See all 51 reported entries
dbSNP ID rs115283528
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 0.00864
Allele Count 51
Allele Number 5902
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPCAM NM_002354.2 -/- - c.831A>G r.(?) p.(Ile277Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001939 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou