Genomic variant #0000027368

Individual ID 00035960
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.45791154G>A
Published as g.15763072G>A
Reference Schafmayer 2007
DB-ID MUTYH_000287 See all 6 reported entries
Frequency 1068 CRC patients: 430 (40.4%) heterozygous, 86 (8.1%) homozygous; 738 controls: 273 (37.3%) heterozygous, 55 (7.5%) homozygous
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.*3824C>T r.(=) p.(=) - - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000024780 - DNA SEQ leukocyte allelic discrimination, test known variant (group) MUTYH 1 Astrid Out