Genomic variant #0000034103

Individual ID 00021753
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.45796945C>G
Reference -
DB-ID MUTYH_000059
dbSNP ID -
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.1343G>C r.(?) p.(Gly448Ala)
MUTYH NM_001048172.1 ?/? - c.1304G>C r.(?) p.(Gly435Ala)
MUTYH NM_001048173.1 ?/? - c.1301G>C r.(?) p.(Gly434Ala)
MUTYH NM_001048174.1 ?/? - c.1301G>C r.(?) p.(Gly434Ala)
MUTYH NM_001128425.1 ?/? - c.1385G>C r.(?) p.(Gly462Ala)
MUTYH NM_012222.2 ?/? - c.1376G>C r.(?) p.(Gly459Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002021 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou