Genomic variant #0000023075

Individual ID 00017322
Chromosome 5
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.112175211T>A
Reference -
DB-ID APC_000005 See all 23 reported entries
dbSNP ID rs1801155
Variant remarks Low-risk allele
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 0.00358
Allele Count 21
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.3920T>A r.(?) p.(Ile1307Lys)
APC NM_001127510.2 +?/+? - c.3920T>A r.(?) p.(Ile1307Lys)
APC NM_001127511.2 +?/+? - c.3866T>A r.(?) p.(Ile1289Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000982 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou