Genomic variant #0000025986

Individual ID 00035081
Chromosome 1
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45795043G>T
Published as 1543C>A (Leu515Met)
Reference MGZ, MŸnchen, DE
DB-ID MUTYH_000177
Frequency -
Variant remarks -
Genetic origin Unknown
Segregation -
Average frequency (large NGS studies) 0.00023 View details
Owner Elke Holinski-Feder




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.1585C>A r.(1585c>a) p.(Leu529Met) - - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000023901 - DNA SEQ - - MUTYH 1 Elke Holinski-Feder