View genomic variant #0000001168

Individual ID 00000159
Chromosome 1
Allele Unknown
Affects function (reported) Does not affect function
Affects function (concluded) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.45332883T>C
Reference -
DB-ID MUTYH_000003 See all 25 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_001048171.1 -/- 6i c.462+35A>G p.(=) Hetero no r.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000179 DNA SEQ-NG CEMIC - 4-jul-2016 - APC, MUTYH 9 Maria Gonzalez-Hospital Italiano
0000000181 DNA SEQ-NG CEMIC - 20-feb-2017 - MLH1, MSH2, MSH6, MUTYH, PMS2 30 Maria Gonzalez-Hospital Italiano