Variant #0000010098 (NC_000012.12:g.132643252C>T, POLE(NM_006231.3):c.4523G>A)

Individual ID 00003027
Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.132643252C>T
Reference -
DB-ID POLE_000034
dbSNP ID rs142508245
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Claudia Martin-Hospital de Córdoba
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     
POLE NM_006231.3 ?/? 35 c.4523G>A p.(Arg1508His) Hetero no r.? -



Screenings


AscendingScreening ID     

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Technique     

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Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000003343 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba hereditary cancer panel (105 genes) 16-apr-2024 Multigenetic panel - 2 Claudia Martin-Hospital de Córdoba