Genomic variant #0000026454

Individual ID 00035386
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45796257C>T
Published as 1435-28G>A
Reference Peterlongo 2006
DB-ID MUTYH_000080 See all 2 reported entries
Frequency 1/160 alleles
Variant remarks Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected
Genetic origin Unknown
Segregation -
Average frequency (large NGS studies) 0.00077 View details
Owner Astrid Out




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Consequence_Predicted     

ID     

InSiGHT Class     

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Splicing/transcript expression     
MUTYH NM_001128425.1 ?/? 14i c.1477-28G>A r.(=) p.(=) - - - - -



Screenings


AscendingScreening ID     

Date     

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Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000024206 - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) MUTYH 1 Astrid Out