View genomic variant #0000006461

Individual ID 00001019
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 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 +/+ 13 c.1187G>A p.(Gly396Asp) Homo N/A r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001222 DNA SEQ-NG Genia-Hospital Italiano - 16-apr-2019 Specific pathology MLH1, MSH2, MSH6, MUTYH, PMS2 9 Maria Gonzalez-Hospital Italiano
0000001223 DNA SEQ-NG Genia-Hospital Italiano - 16-apr-2019 Specific pathology APC, MUTYH 8 Maria Gonzalez-Hospital Italiano