Variant #0000418567 (NC_000001.10:g.45805982C>G, MUTYH(NM_001128425.1):c.-56G>C)

Individual ID 00202884
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.45805982C>G
DNA change (hg38) g.45340310C>G
Published as -
ISCN -
DB-ID MUTYH_000011 See all 2 reported entries
Variant remarks new in this paper; not in 500 control chromosomes
Reference PubMed: Gómez-Fernández 2009
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Astrid Out
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 ?/. _1 c.-56G>C r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000203915 DNA SSCA;SEQ leukocyte Taqman 4 variants, screen MUTYH gene (index) MUTYH 1 Astrid Out