Genomic variant #0000359453

Individual ID 00155673
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.45798734T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID MUTYH_000354 See all 36 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) Variant not found in online data sets
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 -/. 6i c.462+35A>G benign r.(?) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

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