View genomic variant #0000006107

Individual ID 00000897
Chromosome 1
Allele Unknown
Affects function (reported) Probably 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 Laura Vargas Roig-IMBECU




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
MUTYH NM_001048171.1 -?/-? 16 c.1502C>T p.(Ser501Phe) Hetero no r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001067 DNA SEQ-NG Héritas Panel 25 genes (BRCA1, BRCA2, PTEN, TP53, ATM, CDH1, CHEK2, NBN, NF1, PALB2, STK11, BRIP1, RAD51C, RAD51D, MLH1, MSH2, MSH6, PMS2, APC, MUTYH, BMPR1A, SMAD4, CDKN2A, CDK4,EPCAM) 3-mar-2018 Multigenetic panel - 3 Laura Vargas Roig-IMBECU