Variant #0000280192 (NC_000001.10:g.45800167G>A, MUTYH(NM_001128425.1):c.53C>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.45800167G>A
DNA change (hg38) g.45334495G>A
Published as MUTYH(NM_001128425.1):c.53C>T (p.P18L)
ISCN -
DB-ID MUTYH_000024 See all 16 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00104 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 -?/. - c.53C>T r.(?) p.(Pro18Leu) -
TOE1 NM_025077.3 -?/. - c.-5758G>A r.(?) p.(=) -