Variant #0000419075 (NC_000001.10:g.45800146C>T, MUTYH(NM_001128425.1):c.74G>A)

Individual ID 00203210
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.45800146C>T
DNA change (hg38) g.45334474C>T
Published as -
ISCN -
DB-ID MUTYH_000026 See all 16 reported entries
Variant remarks c.53C>T+c.74G>A on same haplotype; c.53C>T+c.74G>A (but not one of these variants alone) localizes MUTYH protein partly to nucleus, partly to mitochondria in Cos cells; wild-type or one variant: only mitochondria. In/near MTS
Reference PubMed: Chen 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 3/686 alleles
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00104 View details
Owner Astrid Out
Database submission license No license selected
Created by Astrid Out
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 ?/. 2 c.74G>A r.(74g>a) p.(Gly25Asp) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000204241 DNA DHPLC;SEQ - ex2, test known variants (group) MUTYH 2 Astrid Out