Variant #0000418361 (NC_000001.10:g.45806206C>T, MUTYH(NM_001128425.1):c.-216-64G>A)

Individual ID 00202750
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.45806206C>T
DNA change (hg38) g.45340534C>T
Published as -280G>A
ISCN -
DB-ID MUTYH_000163 See all 3 reported entries
Variant remarks Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T.
Reference PubMed: Tao 2008
ClinVar ID -
dbSNP ID rs3219465
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.-216-64G>A r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000203781 DNA PCR - - MUTYH 4 Astrid Out