Variant #0000000967 (NC_000017.11:g.31226467G>A, NF1(NM_000267.3):c.2034G>A)

Individual ID 00000100
Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.31226467G>A
Reference -
DB-ID NF1_000001 See all 6 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Private Practice
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
NF1 NM_000267.3 -/- 18 c.2034G>A p.(=) Hetero no r.(=) RECLASSIFIED JUNE 2019



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000109 DNA SEQ-NG Dasa Genómica - Genia;INVITAE Invitae Breast Cancer Panel 20-apr-2017 Multigenetic panel ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, NBN, NF1, PALB2, PTEN, RAD50, STK11, TP53 20 Lina Nuñez-Private Practice