Variant #0000009644 (NC_000012.12:g.132657935G>A, NM_006231.3:c.3311C>T (POLE))

Individual ID 00002415
Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.132657935G>A
Reference -
DB-ID POLE_000018
dbSNP ID rs531705054
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Erika Stegmayer-CIOC
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Date created 2023-12-08 13:46:38 -02:00 (-02)
Date last edited N/A
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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 ?/? 27 c.3311C>T p.(Thr1104Met) Hetero no r.(3311c>u) -



Screenings


AscendingScreening ID     

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Technique     

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Remarks     

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Variants found     

Owner     
0000002701 DNA SEQ-NG;CNV Laboratorio Flores Hereditary cancer panel (30 genes) 19-04-21 Multigenetic panel - 1 Erika Stegmayer-CIOC