Variant #0000763725 (NC_000004.11:g.55127448G>A, PDGFRA(NM_006206.4):c.236G>A)

Individual ID 00362001
Chromosome 4
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.55127448G>A
DNA change (hg38) g.54261281G>A
Published as 236G>A
ISCN -
DB-ID PDGFRA_000004 See all 3 reported entries
Variant remarks -
Reference PubMed: Duvvari 2016
ClinVar ID -
dbSNP ID rs36035373
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0089 View details
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PDGFRA NM_006206.4 ?/. - c.236G>A r.(?) p.(Gly79Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000363229 DNA SEQ;SEQ-NG - WES - 12 LOVD