Variant #0000009518 (NC_000004.12:g.50745_74149dup, PDGFRA(NM_006206.5):c.1789_6378dup)

Individual ID 00001970
Chromosome 4
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.50745_74149dup
Reference -
DB-ID PDGFRA_000009
dbSNP ID -
Variant remarks Gain (Exons 12-23). Copy number = 3
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Maria Laura Gonzalez-Hospital Italiano
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     

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Co_ocurrence     

RNA change     

Review status     
PDGFRA NM_006206.5 ?/? 12-23 c.1789_6378dup p.? Hetero no r.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000002257 DNA SEQ-NG Genia/Invitae Panel Invitae Multi-cancer (85 genes) 18-feb-2022 Multigenetic panel - 2 Maria Laura Gonzalez-Hospital Italiano