Genomic variant #0000039762

Individual ID 00019764
Chromosome 1
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.45797836A>C
Reference -
DB-ID MUTYH_000075 See all 2 reported entries
dbSNP ID  rs1060501333
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 0.00017
Allele Count 1
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.891+2T>G r.spl? p.?
MUTYH NM_001048172.1 +/+ - c.852+2T>G r.spl? p.?
MUTYH NM_001048173.1 +/+ - c.849+2T>G r.spl? p.?
MUTYH NM_001048174.1 +/+ - c.849+2T>G r.spl? p.?
MUTYH NM_001128425.1 +/+ - c.933+2T>G r.spl? p.?
MUTYH NM_012222.2 +/+ - c.924+2T>G r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006132 DNA SEQ 1 MUTYH 2 Despoina Kalfakakou