Variant #0000420001 (NC_000001.10:g.45805566C>G, MUTYH(NM_001128425.1):c.36+325G>C)

Individual ID 00203806
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.45805566C>G
DNA change (hg38) -
Published as IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript)
ISCN -
DB-ID MUTYH_000004 See all 15 reported entries
Variant remarks The variant significantly reduced the level of the MUTYH beta-transcripts in lymphocyte RNA
Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message.
Reference PubMed: Plotz 2012
ClinVar ID -
dbSNP ID rs3219468
Origin Germline
Segregation -
Frequency 1/54 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Guido Plotz
Database submission license No license selected
Created by Carli Tops
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 ?/. 1i c.36+325G>C r.spl p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000204837 DNA;RNA SEQ;TaqMan leukocyte - MUTYH 2 Guido Plotz