Variant #0000009289 (NC_000008.11:g.89971217_89971221del, NBN(NM_002485.4):c.657_661del)

Individual ID 00001932
Chromosome 8
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.89971217_89971221del
Reference -
DB-ID NBN_000021
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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RNA change     

Review status     
NBN NM_002485.4 +/+ 6 c.657_661del p.(Lys219Asnfs*16) Hetero MUTYH r.(657_661del) -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000002219 DNA SEQ-NG Hospital Universitario Austral Panel (30 genes) BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2*, EPCAM*, APC, MUTYH, MITF*, BAP1, CDKN2A, CDK4*, TP53, PTEN, STK11, CDH1, BMPR1A, SMAD4, GREM1*, POLD1*, POLE*, PALB2, CHEK2, ATM, NBN, BARD1, BRIP1, RAD51C, RAD51D 23-aug-2021 Multigenetic panel - 3 Maria Constanza Vallone-Hospital Austral