Genomic variant #0000041461

Individual ID 00022033
Chromosome 5
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.112176756T>A
Reference -
DB-ID APC_000176 See all 66 reported entries
dbSNP ID rs459552
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 0.01761
Allele Count 106
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.5465T>A r.(?) p.(Val1822Asp)
APC NM_001127510.2 ./. - c.5465T>A r.(?) p.(Val1822Asp)
APC NM_001127511.2 ./. - c.5411T>A r.(?) p.(Val1804Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007530 DNA SEQ-NG-I 1 - 46 Stevi Xera