View genomic variant #0000001032

Individual ID 00000149
Chromosome 1
Allele Unknown
Affects function (reported) Not classified
Affects function (concluded) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.45329384C>T
Reference -
DB-ID MUTYH_000007
Average frequency (large NGS studies) Variant not found in online data sets
Owner Pablo Kalfayan-Hospital Italiano




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
MUTYH NM_001048171.1 ./? 16 c.1530G>A p.(Met510Ile) Hetero no r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000165 DNA SEQ-NG CEMIC - 18-nov-2015 - MLH1, MSH2, MSH6, MUTYH, PMS2 23 Pablo Kalfayan-Hospital Italiano