Genomic variant #0000039756

Individual ID 00019645
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.45796933_45796935del
Reference -
DB-ID MUTYH_000069 See all 4 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 0.00034
Allele Count 2
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.1353_1355del r.(?) p.(Val452del)
MUTYH NM_001048172.1 +/+ - c.1314_1316del r.(?) p.(Val439del)
MUTYH NM_001048173.1 +/+ - c.1311_1313del r.(?) p.(Val438del)
MUTYH NM_001048174.1 +/+ - c.1311_1313del r.(?) p.(Val438del)
MUTYH NM_001128425.1 +/+ - c.1395_1397del r.(?) p.(Val466del)
MUTYH NM_012222.2 +/+ - c.1386_1388del r.(?) p.(Val463del)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006010 DNA MLPA 1 MUTYH 1 Despoina Kalfakakou