View genomic variant #0000002556

Individual ID 00000298
Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.45331835G>A
Reference -
DB-ID MUTYH_000009 See all 2 reported entries
Average frequency (large NGS studies) Variant not found in online data sets
Owner Maria Gonzalez-Hospital Italiano




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
MUTYH NM_001128425.1 +/+ 12 c.1012C>T p.(Gln338*) Hetero MUTYH r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000347 DNA SEQ-NG Color-Genda Hereditary Cancer Risk Test (30 genes) 25-sep-2017 - - 2 Maria Gonzalez-Hospital Italiano