View genomic variant #0000007193

Individual ID 00001280
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.45331833C>G
Reference -
DB-ID MUTYH_000004 See all 27 reported entries
Average frequency (large NGS studies) Variant not found in online data sets
Owner Silvina Sisterna-Hospital Privado




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
MUTYH NM_001128425.1 -/- 12 c.1014G>C p.(Gln338His) Hetero no r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001519 DNA CNV;SEQ-NG IACA Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53) 28-mar-2018 Multigenetic panel - 28 Silvina Sisterna-Hospital Privado