Variant #0000009077 (NC_000017.11:g.31358614A>T, NF1(NM_000267.3):c.8042A>T)

Individual ID 00001758
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.31358614A>T
Reference -
DB-ID NF1_000012
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Claudia Martin-Hospital de Córdoba
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     
NF1 NM_000267.3 ?/? 55 c.8042A>T p.(Tyr2681Phe) Hetero no r.(?) -



Screenings


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Variants found     

Owner     
0000002037 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba Panel Cancer mama y 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, TP55 30-oct-2020 Multigenetic panel - 2 Claudia Martin-Hospital de Córdoba