Variant #0000348923 (NC_000001.10:g.45808673C>T, MUTYH(NM_001128425.1):c.-2747G>A)

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.45808673C>T
DNA change (hg38) g.45343001C>T
Published as -
ISCN -
DB-ID TOE1_000003
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) 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.-2747G>A r.(?) p.(=) -
TESK2 NM_007170.2 ?/. - c.*1839G>A r.(=) p.(=) -
TOE1 NM_025077.3 ?/. - c.911C>T r.(?) p.(Ser304Leu) -