Variant #0000008111 (NC_000008.11:g.89955483A>G, NBN(NM_002485.4):c.1197T>C)

Individual ID 00001447
Chromosome 8
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.89955483A>G
Reference -
DB-ID NBN_000009 See all 22 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Laura Vargas Roig-IMBECU
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)     

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RNA change     

Review status     
NBN NM_002485.4 -/- 10 c.1197T>C p.(=) Hetero no r.(=) -



Screenings


AscendingScreening ID     

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Technique     

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Date of test     

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Variants found     

Owner     
0000001702 DNA SEQ-NG Biogenotec Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51D, RAD51D, SMAD4, STK11, TP53, EPCAM) 22-nov-2019 Multigenetic panel - 52 Laura Vargas Roig-IMBECU