Genomic variant #0000030179

Individual ID 00016158
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.112179359G>A
Reference -
DB-ID APC_000004 See all 6 reported entries
dbSNP ID rs140868933
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 0.00102
Allele Count 6
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.8068G>A r.(?) p.(Ala2690Thr)
APC NM_001127510.2 -?/-? - c.8068G>A r.(?) p.(Ala2690Thr)
APC NM_001127511.2 -?/-? - c.8014G>A r.(?) p.(Ala2672Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001666 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou