Genomic variant #0000024224

Individual ID 00017439
Chromosome 1
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.45798458G>A
Reference -
DB-ID MUTYH_000042
dbSNP ID rs750592289
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 0.00024
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MUTYH NM_001048171.1 +?/+? - c.511C>T r.(?) p.(Arg171Trp)
MUTYH NM_001048172.1 +?/+? - c.472C>T r.(?) p.(Arg158Trp)
MUTYH NM_001048173.1 +?/+? - c.469C>T r.(?) p.(Arg157Trp)
MUTYH NM_001048174.1 +?/+? - c.469C>T r.(?) p.(Arg157Trp)
MUTYH NM_001128425.1 +?/+? - c.553C>T r.(?) p.(Arg185Trp)
MUTYH NM_012222.2 +?/+? - c.544C>T r.(?) p.(Arg182Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001108 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou