Genomic variant #0000039697

Individual ID 00016648
Chromosome 1
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45798286C>T
Reference -
DB-ID MUTYH_000074
dbSNP ID  rs147754007
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.608G>A r.(?) p.(Arg203His)
MUTYH NM_001048172.1 ?/? - c.569G>A r.(?) p.(Arg190His)
MUTYH NM_001048173.1 ?/? - c.566G>A r.(?) p.(Arg189His)
MUTYH NM_001048174.1 ?/? - c.566G>A r.(?) p.(Arg189His)
MUTYH NM_001128425.1 ?/? - c.650G>A r.(?) p.(Arg217His)
MUTYH NM_012222.2 ?/? - c.641G>A r.(?) p.(Arg214His)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006983 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou