Genomic variant #0000033985

Individual ID 00017892
Chromosome 16
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.68855966G>A
Reference -
DB-ID CDH1_000014 See all 23 reported entries
dbSNP ID rs35187787
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 0.00387
Allele Count 23
Allele Number 5936
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CDH1 NM_004360.3 -/- - c.1774G>A r.(?) p.(Ala592Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002008 DNA SEQ-NG-I 1 - 23 Despoina Kalfakakou