Genomic variant #0000030989

Individual ID 00021563
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.112179153C>G
Reference -
DB-ID APC_000015 See all 25 reported entries
dbSNP ID rs72541816
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 0.00415
Allele Count 25
Allele Number 6020
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
APC NM_000038.5 -?/-? - c.7862C>G r.(?) p.(Ser2621Cys)
APC NM_001127510.2 -?/-? - c.7862C>G r.(?) p.(Ser2621Cys)
APC NM_001127511.2 -?/-? - c.7808C>G r.(?) p.(Ser2603Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001744 DNA SEQ-NG-I 1 - 5 Despoina Kalfakakou