Genomic variant #0000015700

Individual ID 00016747
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.112102972G>C
Reference -
DB-ID APC_000029 See all 2 reported entries
dbSNP ID rs758995578
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 0.00048
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
APC NM_000038.5 ?/? - c.307G>C r.(?) p.(Val103Leu)
APC NM_001127510.2 ?/? - c.307G>C r.(?) p.(Val103Leu)
APC NM_001127511.2 ?/? - c.337G>C r.(?) p.(Val113Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000404 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou