Genomic variant #0000031713

Individual ID 00021619
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.68772239C>A
Reference -
DB-ID CDH1_000027 See all 5 reported entries
dbSNP ID rs139866691
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 0.00086
Allele Count 5
Allele Number 5788
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CDH1 NM_004360.3 -/- - c.88C>A r.(?) p.(Pro30Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001812 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou