View genomic variant #0000008291

Individual ID 00001492
Chromosome 1
Allele Unknown
Affects function (reported) Probably affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.45332803T>C
Reference -
DB-ID MUTYH_000021 See all 3 reported entries
Average frequency (large NGS studies) Variant not found in online data sets
Owner Erika Stegmayer-CIOC




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
MUTYH NM_001128425.1 +?/+ 7 c.536A>G p.(Tyr179Cys) Hetero N/A r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001761 DNA CNV;SEQ-NG Héritas - 31-oct-2019 Multigenetic panel ATM, BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, PTEN, STK11, TP53 2 Erika Stegmayer-CIOC