Variant #0000009182 (NC_000017.11:g.31265317A>G, NF1(NM_000267.3):c.4750A>G)

Individual ID 00001850
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.31265317A>G
Reference -
DB-ID NF1_000014
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pablo Kalfayan-Hospital Italiano
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     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
NF1 NM_000267.3 ?/? 35 c.4750A>G p.(Ile1584Val) Hetero no r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000002135 DNA SEQ-NG Genesia/Invitae Panel (21 genes) + Panel Invitae cáncer de mama + 8 gnees individuales 07-sep-2021 Multigenetic panel - 1 Pablo Kalfayan-Hospital Italiano