Genomic variant #0000041209

Individual ID 00017346
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.112162813C>A
Reference -
DB-ID APC_000174
dbSNP ID rs876658868
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 0.00017
Allele Count 1
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.1417C>A r.(?) p.(Gln473Lys)
APC NM_001127510.2 ?/? - c.1417C>A r.(?) p.(Gln473Lys)
APC NM_001127511.2 ?/? - c.1363C>A r.(?) p.(Gln455Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007518 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou