Genomic variant #0000418120

Individual ID 00202548
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.45799120C>T
DNA change (hg38) g.45333448C>T
Published as 271G>A (Asp91Asn)
ISCN -
DB-ID MUTYH_000007 See all 5 reported entries
Variant remarks -
Reference PubMed: Nielsen 2005
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 Carli Tops
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 ?/. 3 c.313G>A r.(313g>a) p.(Asp105Asn) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000203579 DNA SEQ leukocyte screen MUTYH gene (index) MUTYH 1 Carli Tops