View genomic variant #0000006479

Individual ID 00001021
Chromosome 1
Allele Unknown
Affects function (reported) Does not affect function
Affects function (concluded) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.45329412G>A
Reference -
DB-ID MUTYH_000018 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 -/-? 16 c.1544C>T p.(Ser515Phe) Hetero MLH1 r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001226 DNA SEQ-NG Genia-Hospital Italiano - 30-apr-2019 Specific pathology EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2 15 Carlos Vaccaro-Hospital Italiano