Genomic variant #0000027251

Individual ID 00035876
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.45795081G>A
Published as 1505C>T (Pro502Leu)
Reference Al-Tassan 2003
DB-ID MUTYH_000095 See all 2 reported entries
Frequency -
Variant remarks -
Genetic origin Germline (inherited)
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.1547C>T r.(1547c>u) p.(Pro516Leu) - - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000024696 - DNA SEQ leukocyte specific assay, screen MUTYH gene (index) MUTYH 1 Astrid Out