Variant #0000419064 (NC_000001.10:g.45805624G>A, MUTYH(NM_001128425.1):c.36+267C>T)

Individual ID 00203202
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.45805624G>A
DNA change (hg38) g.45339952G>A
Published as -
ISCN -
DB-ID MUTYH_000200 See all 2 reported entries
Variant remarks Beta transcript: NM_001048174.1:c.-60C>T (ex1) ; Gamma: NM_001048173.1:c.-7+24C>T (IVS1+24C>T); not on putative TF binding seq (www.genomatix.de/matinspector.html). Contains GAGA box seq in opposite orientation; 301 bp upstream of initiation codon TOE1
Reference PubMed: Goto 2008
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency 1/46 alleles
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00368 View details
Owner Astrid Out
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 ?/. 1i c.36+267C>T r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000204233 DNA SEQ FFPE, non-cancerous gastric mucosa SEQ (ex1-16), screen MUTYH gene (index) MUTYH 1 Astrid Out