Variant #0000009023 (NC_000008.11:g.89970458T>C, NBN(NM_002485.4):c.802A>G)

Individual ID 00001698
Chromosome 8
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.89970458T>C
Reference -
DB-ID NBN_000019
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Maria Constanza Vallone-Hospital Austral
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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DNA change (cDNA)     

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Review status     
NBN NM_002485.4 ?/? 7 c.802A>G p.(Thr268Ala) Hetero BRCA1 r.(?) -



Screenings


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Owner     
0000001974 DNA SEQ-NG Hospital Universitario Austral Panel (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLE, POLD1, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53. 03-may-2021 Multigenetic panel - 2 Maria Constanza Vallone-Hospital Austral