Genomic variant #0000042347

Individual ID 00022058
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.112173527G>A
Reference -
DB-ID APC_000178
dbSNP ID -
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 0.00017
Allele Count 1
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.2236G>A r.(?) p.(Gly746Ser)
APC NM_001127510.2 ./. - c.2236G>A r.(?) p.(Gly746Ser)
APC NM_001127511.2 ./. - c.2182G>A r.(?) p.(Gly728Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007555 DNA SEQ-NG-I 1 - 41 Stevi Xera