Variant #0000848752 (NC_000001.10:g.45808055G>A, MUTYH(NM_001128425.1):c.-2129C>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.45808055G>A
DNA change (hg38) -
Published as TOE1(NM_025077.4):c.493-1G>A
ISCN -
DB-ID TESK2_000016
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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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.-2129C>T r.(?) p.(=) -
TESK2 NM_007170.2 +?/. - c.*2457C>T r.(=) p.(=) -
TOE1 NM_025077.3 +?/. - c.493-1G>A r.spl? p.? -