Genomic variant #0000026904

Individual ID 00020188
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.45796272A>C
Reference -
DB-ID MUTYH_000023 See all 3 reported entries
dbSNP ID rs376562869
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 0.00051
Allele Count 3
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.1435-43T>G r.(=) p.(=)
MUTYH NM_001048172.1 ?/? - c.1396-43T>G r.(=) p.(=)
MUTYH NM_001048173.1 ?/? - c.1393-43T>G r.(=) p.(=)
MUTYH NM_001048174.1 ?/? - c.1393-43T>G r.(=) p.(=)
MUTYH NM_001128425.1 ?/? - c.1477-43T>G r.(=) p.(=)
MUTYH NM_012222.2 ?/? - c.1468-43T>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001375 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou