Genomic variant #0000039486

Individual ID 00016630
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.112136954G>C
Reference -
DB-ID APC_000068 See all 7 reported entries
dbSNP ID rs115634618
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 0.00119
Allele Count 7
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.730-22G>C r.(=) p.(=)
APC NM_001127510.2 -?/-? - c.730-22G>C r.(=) p.(=)
APC NM_001127511.2 -?/-? - c.676-22G>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006966 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou