Genomic variant #0000027490

Individual ID 00036053
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
Published as -
Reference Sun C et al.,2009
DB-ID MUTYH_000319
Frequency 43.2%,alleles
Variant remarks the inserted fragment was highly homologous to the
consensus of a conserved AluYb8 subfamily (u 14570, GenBank) in its
reversed orientation.
Genetic origin Germline (inherited)
Segregation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Yaping Wang




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 ?/? 15i c.1518+479_1518+480ins326 r.? p.? - - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000024873 - DNA PCR;SEQ - - MUTYH 1 Yaping Wang