Genomic variant #0000022252

Individual ID 00021356
Chromosome 5
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.112179362A>G
Reference -
DB-ID APC_000070 See all 3 reported entries
dbSNP ID rs1060503281
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 0.00051
Allele Count 3
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.8071A>G r.(?) p.(Asn2691Asp)
APC NM_001127510.2 ?/? - c.8071A>G r.(?) p.(Asn2691Asp)
APC NM_001127511.2 ?/? - c.8017A>G r.(?) p.(Asn2673Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000900 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou