Genomic variant #0000038266

Individual ID 00021957
Chromosome 1
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.45796894_45796896del
Reference -
DB-ID MUTYH_000068 See all 8 reported entries
dbSNP ID  rs587778541
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 0.00085
Allele Count 5
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.1392_1394del r.(?) p.(Glu466del)
MUTYH NM_001048172.1 +/+ - c.1353_1355del r.(?) p.(Glu453del)
MUTYH NM_001048173.1 +/+ - c.1350_1352del r.(?) p.(Glu452del)
MUTYH NM_001048174.1 +/+ - c.1350_1352del r.(?) p.(Glu452del)
MUTYH NM_001128425.1 +/+ - c.1434_1436del r.(?) p.(Glu480del)
MUTYH NM_012222.2 +/+ - c.1425_1427del r.(?) p.(Glu477del)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006870 DNA SEQ - MUTYH 2 Despoina Kalfakakou