Genomic variant #0000025807

Individual ID 00034971
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45795019T>C
Published as 1567A>G (Ile523Val)
Reference Olschwang 2007
DB-ID MUTYH_000145
Frequency -
Variant remarks -
Genetic origin Unknown
Segregation -
Average frequency (large NGS studies) Variant not found in online data sets
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.1609A>G r.(1609a>g) p.(Ile537Val) - - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000023791 - DNA SEQ - - MUTYH 1 Astrid Out