Variant #0000418380 (NC_000001.10:g.45805566C>G, MUTYH(NM_001128425.1):c.36+325G>C)

Individual ID 00202761
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.45805566C>G
DNA change (hg38) -
Published as IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript)
ISCN -
DB-ID MUTYH_000004 See all 15 reported entries
Variant remarks Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002).
Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message.
Reference PubMed: Yamaguchi 2002
ClinVar ID -
dbSNP ID rs3219468
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 ?/. 1i c.36+325G>C r.spl p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000203792 DNA SEQ - - MUTYH 1 Astrid Out