Variant #0000282711 (NC_000001.10:g.45800156C>A, MUTYH(NM_001128425.1):c.64G>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.45800156C>A
DNA change (hg38) g.45334484C>A
Published as MUTYH(NM_001128425.1):c.64G>T (p.V22L)
ISCN -
DB-ID MUTYH_000359
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_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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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.64G>T r.(?) p.(Val22Leu) -
TOE1 NM_025077.3 ?/. - c.-5769C>A r.(?) p.(=) -