Genomic variant #0000034922

Individual ID 00021804
Chromosome 5
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.112178112C>T
Reference -
DB-ID APC_000043 See all 8 reported entries
dbSNP ID rs34919187
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 0.00136
Allele Count 8
Allele Number 5872
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
APC NM_000038.5 -?/-? - c.6821C>T r.(?) p.(Ala2274Val)
APC NM_001127510.2 -?/-? - c.6821C>T r.(?) p.(Ala2274Val)
APC NM_001127511.2 -?/-? - c.6767C>T r.(?) p.(Ala2256Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002096 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou