Genomic variant #0000027246

Individual ID 00035871
Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45795084G>A
Published as 1502C>T (Ser501Phe)
Reference Al-Tassan 2003
DB-ID MUTYH_000094 See all 23 reported entries
Frequency 3/208 (1.4%)
Variant remarks -
Genetic origin Germline (inherited)
Segregation -
Average frequency (large NGS studies) 0.01107 View details
Owner Astrid Out




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Consequence_Predicted     

ID     

InSiGHT Class     

Protein/Domain     

Splicing/transcript expression     
MUTYH NM_001128425.1 -?/? 16 c.1544C>T r.(1544c>u) p.(Ser515Phe) - - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000024691 - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) MUTYH 1 Astrid Out