All variants in the PDGFRA gene

Information The variants shown are described using the NM_006206.4 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.3098A>T r.(?) p.(Asp1033Val) - likely benign g.55156697A>T g.54290530A>T - - PDGFRA_000027 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201874958 Germline - 1/2795 individuals - 0 - Mohammed Faruq
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