All transcript variants in gene PDGFRB

Information The variants shown are described using the NM_002609.3 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

AscendingDNA change (cDNA)     

Exon     

Protein     

DNA change (genomic) (hg19)     

gnomAD MAF     

dbSNP ID     

Segregation     

Zygosity     

ACMG class     

Reference     

DB-ID     

Owner     
?/. c.3G>A 2 p.(Met1?) g.149516608C>T - - yes - Pathogenic [Wang, 2017] PDGFRB_000005 Coppola Lab UCLA (EMR)
?/. c.3G>A 2 p.(Met1?) g.149516608C>T - - - - Pathogenic [Guo, 2019] PDGFRB_000005 Coppola Lab UCLA (EMR)
./. c.676C>T 5 p.(Arg226Cys) g.149513527G>A - - - - Uncertain significance [Ramos, 2018] PDGFRB_000007 Coppola Lab UCLA (EMR)
?/. c.1126C>T 7 p.(Arg376Trp) g.149512314G>A 0.000011020 - - - Uncertain significance [DeMeo, 2017] PDGFRB_000010 Coppola Lab UCLA (EMR)
./. c.1787C>T 12 p.(Pro596Leu) g.149505028G>A - - - - Uncertain significance [Ramos, 2018] PDGFRB_000008 Coppola Lab UCLA (EMR)
+?/. c.1834G>A 13 p.(Gly612Arg) g.149504368C>T - - - - Likely Pathogenic [Mathorne, 2019] PDGFRB_000011 Coppola Lab UCLA (EMR)
./. c.1973T>C 14 p.(Leu658Pro) g.149503863A>G - - yes - Likely Pathogenic [Nicolas, 2013a] PDGFRB_000002 Coppola Lab UCLA (EMR)
./. c.2083C>T 15 p.(Arg695Cys) g.149502705G>A 0.000111900 - ? - Uncertain significance [Sanchez-Contreras, 2014] PDGFRB_000004 Coppola Lab UCLA (EMR)
./. c.2209G>A 16 p.(Asp737Asn) g.149501578C>T 0.000004060 - yes - Uncertain significance [Wang, 2017] PDGFRB_000006 Coppola Lab UCLA (EMR)
?/. c.2209G>A 16 p.(Asp737Asn) g.149501578C>T 0.000007958 - - - Uncertain significance [Guo, 2019] PDGFRB_000006 Coppola Lab UCLA (EMR)
./. c.2531A>G 18 p.(Asp844Gly) g.149500506T>C - - - - Pathogenic [Ramos, 2018] PDGFRB_000009 Coppola Lab UCLA (EMR)
./. c.2959C>T 22 p.(Arg987Trp) g.149497359G>A 0.000028500 rs397509382 ? - Uncertain significance [Nicolas, 2013a] PDGFRB_000001 Coppola Lab UCLA (EMR)
./. c.3212A>T 23 p.(Glu1071Val) g.149495435T>A - - ? - Uncertain significance [Nicolas, 2013b] PDGFRB_000003 Coppola Lab UCLA (EMR)
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