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
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