Variant #0000507692 (NC_000001.10:g.45808833C>T, MUTYH(NM_001128425.1):c.-2907G>A)

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.45808833C>T
DNA change (hg38) g.45343161C>T
Published as TOE1(NM_025077.4):c.992C>T (p.A331V)
ISCN -
DB-ID TESK2_000006
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) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 -?/. - c.-2907G>A r.(?) p.(=) -
TESK2 NM_007170.2 -?/. - c.*1679G>A r.(=) p.(=) -
TOE1 NM_025077.3 -?/. - c.992C>T r.(?) p.(Ala331Val) -