Genomic variant #0000034187

Individual ID 00017906
Chromosome 5
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.112174456A>T
Reference -
DB-ID APC_000115 See all 2 reported entries
dbSNP ID rs61734287
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 0.00033
Allele Count 2
Allele Number 6020
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
APC NM_000038.5 -/- - c.3165A>T r.(=) p.(=)
APC NM_001127510.2 -/- - c.3165A>T r.(=) p.(=)
APC NM_001127511.2 -/- - c.3111A>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002030 DNA SEQ-NG-I 1 - 5 Despoina Kalfakakou