Variant #0000765958 (NC_000008.10:g.72267106C>T, MUTYH(NM_001128425.1):c.35G>A)

Individual ID 00363780
Chromosome 8
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.72267106C>T
DNA change (hg38) g.71354871C>T
Published as -
ISCN -
DB-ID MUTYH_000595 See all 2 reported entries
Variant remarks -
Reference PubMed: Huang 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00023 View details
Owner LOVD
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.35G>A r.(?) p.(Arg12His) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000365008 DNA SEQ-NG - gene panel EYA1 1 LOVD