Variant #0000008875 (NC_000004.12:g.54273604T>C, PDGFRA(NM_006206.5):c.1432T>C)

Individual ID 00001536
Chromosome 4
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.54273604T>C
Reference -
DB-ID PDGFRA_000002
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     
PDGFRA NM_006206.5 -/- 10 c.1432T>C p.(Ser478Pro) Hetero no . -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001809 DNA CNV;SEQ-NG Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) 27-nov-2019 Multigenetic panel - 116 Lina Nuñez-Private Practice