View genomic variant #0000003699

Individual ID 00000467
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.45330597G>C
Reference -
DB-ID MUTYH_000005 See all 27 reported entries
Average frequency (large NGS studies) Variant not found in online data sets
Owner Florencia Petracchi-CEMIC




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
MUTYH NM_001048171.1 -/- 14i c.1435-40C>G p.(=) Homo MLH1, MUTYH r.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000525 DNA SEQ-NG CEMIC - 14-aug-2017 - MLH1, MSH2, MSH6, MUTYH, PMS2 30 Florencia Petracchi-CEMIC