Variant #0000845022 (NC_000001.10:g.45800165G>A, MUTYH(NM_001128425.1):c.55C>T)

Individual ID 00406899
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.45800165G>A
DNA change (hg38) g.45334493G>A
Published as -
ISCN -
DB-ID MUTYH_000205 See all 6 reported entries
Variant remarks -
Reference PubMed: Jiang 2022
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency 1/486 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 +/. - c.55C>T r.(?) p.(Arg19Ter) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000408145 DNA SEQ-NG - 81-gene panel - 1 Johan den Dunnen