Genomic variant #0000029014

Individual ID 00020884
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.45798559_45798571del
Reference -
DB-ID MUTYH_000027 See all 20 reported entries
dbSNP ID rs781222233
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 0.00205
Allele Count 12
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.462+19_462+31del r.(=) p.(=)
MUTYH NM_001048172.1 +/+ - c.423+19_423+31del r.(=) p.(=)
MUTYH NM_001048173.1 +/+ - c.420+19_420+31del r.(=) p.(=)
MUTYH NM_001048174.1 +/+ - c.420+19_420+31del r.(=) p.(=)
MUTYH NM_001128425.1 +/+ - c.504+19_504+31del r.(=) p.(=)
MUTYH NM_012222.2 +/+ - c.495+19_495+31del r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001561 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou