Variant #0000419871 (NC_000001.10:g.45808863G>A, MUTYH(NM_001128425.1):c.-216-2721C>T)

Individual ID 00203707
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.45808863G>A
DNA change (hg38) g.45343191G>A
Published as NT_032977.9:g.15780781G>A; rs9429157
ISCN -
DB-ID MUTYH_000288 See all 7 reported entries
Variant remarks NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His
Reference PubMed: Schafmayer 2007
ClinVar ID -
dbSNP ID rs9429157
Origin Germline
Segregation -
Frequency 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.02388 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 ?/. _1 c.-216-2721C>T r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000204738 DNA SEQ leukocyte allelic discrimination, test known variant (group) MUTYH 1 Astrid Out