Variant #0000009533 (NC_000017.11:g.31338738dup, NF1(NM_000267.3):c.6791dup)

Individual ID 00002162
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.31338738dup
Reference -
DB-ID NF1_000019
dbSNP ID rs876657715
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Norma Rossi - Sanatorio Allende
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     

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DNA change (cDNA)     

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RNA change     

Review status     
NF1 NM_000267.3 +/+ 45 c.6791dup p.(Tyr2264*) Hetero N/A r.(6791dup) -



Screenings


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Variants found     

Owner     
0000002450 DNA SEQ-NG Fundación para el Progreso de la Medicina Panel Cancer de mama-ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53. 1-nov-2022 Multigenetic panel - 2 Norma Rossi - Sanatorio Allende