Genomic variant #0000027563

Individual ID 00036110
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.45794989C>T
Published as -
Reference ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication
DB-ID chr1_000001
Frequency -
Variant remarks -
Genetic origin Germline (inherited)
Segregation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Stephanie Baert-Desurmont




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_001048171.1 ?/. - c.1597G>A r.(?) p.Ala533Thr - - - - -
MUTYH NM_001128425.1 ./. - c.1639G>A r.(?) p.(Ala547Thr) - - - - -



Screenings


AscendingScreening ID     

Date     

Template     

Technique     

Tissue     

Method     

Genes screened     

Variants found     

Owner     
0000024930 - DNA ? - - - 2 Stephanie Baert-Desurmont