Variant #0000006479 (NC_000001.11:g.45329412G>A, MUTYH(NM_001128425.1):c.1544C>T)

Individual ID 00001021
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.45329412G>A
Reference -
DB-ID MUTYH_000018 See all 2 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Maria Laura Gonzalez-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     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

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Co_ocurrence     

RNA change     

Review status     
MUTYH NM_001128425.1 -/-? 16 c.1544C>T p.(Ser515Phe) Hetero MLH1 r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

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Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001226 DNA SEQ-NG Dasa Genómica - Genia;Hospital Italiano de Buenos Aires - 30-apr-2019 Specific pathology EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2 15 Carlos Vaccaro-Hospital Italiano