Variant #0000741040 (NC_000001.10:g.45805911A>G, MUTYH(NM_001128425.1):c.16T>C)

Individual ID 00340179
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.45805911A>G
DNA change (hg38) -
Published as chr1_45805911_A_G
ISCN -
DB-ID TOE1_000010
Variant remarks not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
Reference PubMed: Dorling 2021, Journal: Dorling 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/53461 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner BRIDGES consortium
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 ?/. - c.16T>C r.(?) p.(Ser6Pro) -
TOE1 NM_025077.3 ?/. - c.-14A>G r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000341409 DNA SEQ-NG - 34-gene panel MUTYH 1 BRIDGES consortium