Genomic variant #0000020002

Individual ID 00020052
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.45798475T>C
Reference -
DB-ID MUTYH_000032 See all 4 reported entries
dbSNP ID rs34612342
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 0.00068
Allele Count 4
Allele Number 5858
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MUTYH NM_001048171.1 +/+ - c.494A>G r.(?) p.(Tyr165Cys)
MUTYH NM_001048172.1 +/+ - c.455A>G r.(?) p.(Tyr152Cys)
MUTYH NM_001048173.1 +/+ - c.452A>G r.(?) p.(Tyr151Cys)
MUTYH NM_001048174.1 +/+ - c.452A>G r.(?) p.(Tyr151Cys)
MUTYH NM_001128425.1 +/+ - c.536A>G r.(?) p.(Tyr179Cys)
MUTYH NM_012222.2 +/+ - c.527A>G r.(?) p.(Tyr176Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000701 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou