Variant #0000717536 (NC_000001.10:g.45809148G>C, MUTYH(NM_001128425.1):c.-3222C>G)

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.45809148G>C
DNA change (hg38) -
Published as TOE1(NM_025077.4):c.1307G>C (p.G436A)
ISCN -
DB-ID TESK2_000014
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_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 ?/. - c.-3222C>G r.(?) p.(=) -
TESK2 NM_007170.2 ?/. - c.*1364C>G r.(=) p.(=) -
TOE1 NM_025077.3 ?/. - c.1307G>C r.(?) p.(Gly436Ala) -