Variant #0000007278 (NC_000008.11:g.89946302T>C, NBN(NM_002485.4):c.1915-7A>G)

Individual ID 00001282
Chromosome 8
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.89946302T>C
Reference -
DB-ID NBN_000010 See all 13 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
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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Co_ocurrence     

RNA change     

Review status     
NBN NM_002485.4 ./- 12i c.1915-7A>G p.(=) Not specified no r.(=) -



Screenings


AscendingScreening ID     

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Technique     

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Date of test     

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Variants found     

Owner     
0000001521 DNA CNV;SEQ-NG IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) 10-jan-2020 Multigenetic panel - 39 Silvina Sisterna-Hospital de Comunidad