Variant #0000419659 (NC_000001.10:g.45800178G>A, MUTYH(NM_001128425.1):c.42C>T)

Individual ID 00203546
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.45800178G>A
DNA change (hg38) g.45334506G>A
Published as -
ISCN -
DB-ID MUTYH_000262 See all 3 reported entries
Variant remarks -
Reference Molecular Oncology, CRCM-UMR, Marseille, FR
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 9.0E-5 View details
Owner Sylviane Olschwang
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.42C>T r.(42c>u) p.(Ile14Ile) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000204577 DNA SEQ - - MUTYH 1 Sylviane Olschwang