Variant #0000418202 (NC_000001.10:g.45806103G>A, MUTYH(NM_001128425.1):c.-177C>T)

Individual ID 00202622
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.45806103G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID MUTYH_000001 See all 3 reported entries
Variant remarks 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 Clinical Genetics, LUMC, Leiden, NL
ClinVar ID -
dbSNP ID rs3219466
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Carli Tops
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 ?/. _1 c.-177C>T r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000203653 DNA SEQ leukocyte screen MUTYH gene (index) MUTYH 1 Carli Tops