Genomic variant #0000020471

Individual ID 00016962
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.112177817T>C
Reference -
DB-ID APC_000057 See all 3 reported entries
dbSNP ID rs183468041
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.6526T>C r.(=) p.(=)
APC NM_001127510.2 -/- - c.6526T>C r.(=) p.(=)
APC NM_001127511.2 -/- - c.6472T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000733 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou