Variant #0000507691 (NC_000001.10:g.45808162A>T, MUTYH(NM_001128425.1):c.-2236T>A)

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.45808162A>T
DNA change (hg38) g.45342490A>T
Published as -
ISCN -
DB-ID TESK2_000005
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) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 +?/. - c.-2236T>A r.(?) p.(=) -
TESK2 NM_007170.2 +?/. - c.*2350T>A r.(=) p.(=) -
TOE1 NM_025077.3 +?/. - c.599A>T r.(?) p.(Tyr200Phe) -