Variant #0000009046 (NC_000017.11:g.31223481_31223482insTAGTT, NF1(NM_000267.3):c.1759_1760insTAGTT)

Individual ID 00001726
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.31223481_31223482insTAGTT
Reference -
DB-ID NF1_000011
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marcela Lopez - Instituto Donna
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)     

Protein     

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Co_ocurrence     

RNA change     

Review status     
NF1 NM_000267.3 +/+ 16 c.1759_1760insTAGTT p.(Ser587Ilefs*20) Hetero N/A r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

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Type of test     

Genes screened     

Variants found     

Owner     
0000002005 DNA SEQ-NG Argenomics "Panel Argenomics (47 genes) APC ATM AXIN2 BARD1 BMPR1A BRCA1 BRCA2 BRIP1 CDH1 CDK4 CDKN2A CHEK2 CTNNA1 DICER1 EPCAM GREM1 HOXB13 KIT MEN1 MLH1 MSH2 MSH3 MSH6 MUTYH NBN NF1 NTHL1 PALB2 PDGFRA PMS2 POLD1 POLE PTEN RAD50 RAD51C RAD51D SDHA SDHB SDHC SDHD SMAD4 SMARCA4 STK11 TP53 TSC1 TSC2 VHL" 25-mar-2019 Multigenetic panel - 1 Marcela Lopez - Instituto Donna