Variant #0000688193 (NC_000001.10:g.45809017G>A, MUTYH(NM_001128425.1):c.-3091C>T)

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.45809017G>A
DNA change (hg38) -
Published as TOE1(NM_025077.4):c.1176G>A (p.L392=)
ISCN -
DB-ID TESK2_000012
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) 0.00721 View details
Owner VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
MUTYH NM_001128425.1 -?/. - c.-3091C>T r.(?) p.(=) -
TESK2 NM_007170.2 -?/. - c.*1495C>T r.(=) p.(=) -
TOE1 NM_025077.3 -?/. - c.1176G>A r.(?) p.(Leu392=) -