Variant #0000418867 (NC_000001.10:g.45800167G>A, MUTYH(NM_001128425.1):c.53C>T)

Individual ID 00203077
Chromosome 1
Allele Parent #1
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.45800167G>A
DNA change (hg38) g.45334495G>A
Published as P18L
ISCN -
DB-ID MUTYH_000024 See all 16 reported entries
Variant remarks Five heterozygous or homozygous in 143 multiple adenoma patients; P18L and G25D in 100% LD; frequency in controls not given
Reference PubMed: Kim 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00104 View details
Owner Astrid Out
Database submission license No license selected
Created by Astrid Out
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 ?/. 2 c.53C>T r.(53c>u) p.(Pro18Leu) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000204108 DNA SSCA;SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (group) MUTYH 2 Astrid Out