Variant #0000006192 (NC_000001.11:g.45334484C>T, MUTYH(NM_001128425.1):c.64G>A)

Individual ID 00000924
Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.45334484C>T
Reference -
DB-ID MUTYH_000008 See all 12 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pablo Kalfayan-Hospital Italiano
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

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Exon     

DNA change (cDNA)     

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RNA change     

Review status     
MUTYH NM_001128425.1 -/-? 2 c.64G>A p.(Val22Met) Hetero no r.(?) -



Screenings


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Variants found     

Owner     
0000001113 DNA SEQ-NG Dasa Genómica - Genia;Hospital Italiano de Buenos Aires - 28-feb-2019 Specific pathology EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2 5 Pablo Kalfayan-Hospital Italiano