Genomic variant #0000025344

Individual ID 00034618
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.45796269C>G
Published as 1435-40G>C
Reference Görgens 2006
DB-ID MUTYH_000106 See all 25 reported entries
Frequency 12/50 (12%) HNPCC patients (42/50 <50 years); (1.7% (?) of 116 controls)
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 -?/? 14i c.1477-40G>C r.(=) p.(=) - - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000023438 - DNA SEQ - - MUTYH 1 Astrid Out