View genomic variant #0000006407

Individual ID 00000992
Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.45331556C>T
Reference -
DB-ID MUTYH_000010 See all 13 reported entries
Average frequency (large NGS studies) Variant not found in online data sets
Owner Marina Antelo-Hospital Udaondo




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
MUTYH NM_001128425.1 +/+ 13 c.1187G>A p.(Gly396Asp) Hetero N/A r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001194 DNA CNV;SEQ-NG Color-Genda Hereditary Cancer Risk Test (30 genes) 20-aug-2018 Multigenetic panel - 1 Marina Antelo-Hospital Udaondo