Variant #0000343516 (NC_000001.10:g.45807192G>A, MUTYH(NM_001128425.1):c.-1266C>T)

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.45807192G>A
DNA change (hg38) g.45341520G>A
Published as -
ISCN -
DB-ID TOE1_000002
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) 1.0E-5 View details
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.-1266C>T r.(?) p.(=) -
TESK2 NM_007170.2 ?/. - c.*3320C>T r.(=) p.(=) -
TOE1 NM_025077.3 ?/. - c.284G>A r.(?) p.(Arg95His) -