Genomic variant #0000025848

Individual ID 00035000
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 Clinical Genetics, LUMC, Leiden, NL
DB-ID MUTYH_000106 See all 25 reported entries
Frequency -
Variant remarks Alamut: no major splice site change predicted
Genetic origin Germline (inherited)
Segregation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Carli Tops




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     
0000023820 - DNA SEQ leukocyte screen MUTYH gene (index) MUTYH 5 Carli Tops