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.2546A>G r.(?) p.(Tyr849Cys) - pathogenic g.55152114A>G g.54285947A>G - - PDGFRA_000001 - - - - Germline - - - 0 - Andreas Laner
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