Genomic variant #0000043619

Individual ID 00022095
Chromosome 5
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.112178795G>A
Reference -
DB-ID APC_000179 See all 2 reported entries
dbSNP ID rs2229995
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00033
Allele Count 2
Allele Number 6020
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
APC NM_000038.5 ./. - c.7504G>A r.(?) p.(Gly2502Ser)
APC NM_001127510.2 ./. - c.7504G>A r.(?) p.(Gly2502Ser)
APC NM_001127511.2 ./. - c.7450G>A r.(?) p.(Gly2484Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007593 DNA SEQ-NG-I 1 - 43 Stevi Xera