View genomic variant #0000006038

Individual ID 00000884
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 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 -/- 12 c.972G>C p.(Gln324His) Hetero no r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001049 DNA SEQ-NG CEMIC - 25-oct-2018 Specific pathology MLH1, MSH2, MSH6, MUTYH, PMS2 11 Pablo Kalfayan-CEMIC