Genomic variant #0000359417

Individual ID 00155673
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.45799121G>A
DNA change (hg38) -
Published as 270C>T (Tyr104=)
ISCN -
DB-ID MUTYH_000031 See all 13 reported entries
Variant remarks -
Reference contributed by Dept. of Dr Vaccaro
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00185 View details
Owner Angela Solano & F Cardoso




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 ?/. 3 c.312C>T VUS r.(=) p.(Tyr104=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000156538 DNA SEQ - - - 7 Angela Solano & F Cardoso