Genomic variant #0000004414

Individual ID 00016390
Chromosome 1
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.45798225G>T
Reference -
DB-ID MUTYH_000001 See all 14 reported entries
dbSNP ID rs148552450
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 0.00239
Allele Count 14
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.648+21C>A r.(=) p.(=)
MUTYH NM_001048172.1 -/- - c.609+21C>A r.(=) p.(=)
MUTYH NM_001048173.1 -/- - c.606+21C>A r.(=) p.(=)
MUTYH NM_001048174.1 -/- - c.606+21C>A r.(=) p.(=)
MUTYH NM_001128425.1 -/- - c.690+21C>A r.(=) p.(=)
MUTYH NM_012222.2 -/- - c.681+21C>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000109 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou