Genomic variant #0000025984

Individual ID 00035079
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.45796198C>T
Published as 1466G>A (Gly489Glu)
Reference MGZ, MŸnchen, DE
DB-ID MUTYH_000176
Frequency -
Variant remarks -
Genetic origin Unknown
Segregation -
Average frequency (large NGS studies) 0.00054 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 -/? 15 c.1508G>A r.(1508g>a) p.(Gly503Glu) - - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000023899 - DNA SEQ - - MUTYH 1 Elke Holinski-Feder