Variant #0000418754 (NC_000001.10:g.45805880G>A, MUTYH(NM_001128425.1):c.36+11C>T)

Individual ID 00203000
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.45805880G>A
DNA change (hg38) g.45340208G>A
Published as IVS1+11C>T
ISCN -
DB-ID MUTYH_000003 See all 10 reported entries
Variant remarks www.fruitfly.org: no splicing effect
Reference PubMed: Zhou 2005
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency 2,1% of n=84
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00333 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+11C>T r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000204031 DNA DHPLC;SEQ leukocyte ex 1-16 screen MUTYH gene (group) MUTYH 1 Astrid Out