All transcript variants in gene PDGFB

Information The variants shown are described using the NM_002608.2 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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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 1 p.(Met1?) g.39639966C>T - rs398122399 yes - Likely Pathogenic [Keller, 2013] PDGFB_000001 Coppola Lab UCLA (EMR)
+?/. c.3G>C 1 p.(Met1?) g.39639966C>G - - yes - Likely Pathogenic [Biancheri, 2016] PDGFB_000021 Coppola Lab UCLA (EMR)
?/? c.26T>G 1 p.(Leu9Arg) g.39639943A>C - - yes - Likely Pathogenic [Keller, 2013] PDGFB_000011 Coppola Lab UCLA (Andrea Legati)
./. c.26T>G 1 p.(Leu9Arg) g.39639943A>C - - yes - Uncertain significance [Paucar, 2016] PDGFB_000011 Coppola Lab UCLA (EMR)
+/. c.33_34delCT 1 p.(Cys12Leufs*19) g.39639935_39639936delAG - - - - Pathogenic [Sekine, 2019] PDGFB_000032 Coppola Lab UCLA (EMR)
./. c.64-3C>G 1i p.? g.39631882G>C - - ? - Likely Pathogenic [Nicolas, 2015] PDGFB_000017 Coppola Lab UCLA (EMR)
+/. c.160+2T>A 2i p.? g.39631781A>T - - - - Pathogenic [Sekine, 2019] PDGFB_000030 Coppola Lab UCLA (EMR)
./. c.161-238_602-676del441 3-5 p.Glu54Aladel147 g.39622528_39629767del441 - - ? - Likely Pathogenic [Nicolas, 2014] PDGFB_000016 Coppola Lab UCLA (EMR)
?/. c.220G>T 3 p.(Glu74*) g.39629470C>A - - yes - Pathogenic [Yao,2016] PDGFB_000022 Coppola Lab UCLA (EMR)
?/. c.220G>T 3 p.(Glu74*) g.39629470C>A - - - - Pathogenic [Guo, 2019] PDGFB_000022 Coppola Lab UCLA (EMR)
?/. c.232C>T 3 p.(Arg78Cys) g.39629458G>A - - yes - Likely Pathogenic [Wang, 2017] PDGFB_000028 Coppola Lab UCLA (EMR)
?/. c.232C>T 3 p.(Arg78Cys) g.39629458G>A - - - - Likely Pathogenic [Yao, 2017] PDGFB_000028 Coppola Lab UCLA (EMR)
?/. c.232C>T 3 p.(Arg78Cys) g.39629458G>A - - - - Likely Pathogenic [Guo, 2019] PDGFB_000028 Coppola Lab UCLA (EMR)
./. c.283G>A 4 p.(Ala95Thr) g.39627800C>T - - ? - Likely Pathogenic [Nicolas,2015] PDGFB_000018 Coppola Lab UCLA (EMR)
./. c.328C>G 4 p.(Leu110Val) g.39627755G>C - - ? - Likely Pathogenic [Nicolas,2015] PDGFB_000019 Coppola Lab UCLA (EMR)
+/. c.329T>C 4 p.(Leu110Pro) g.39627754A>G - - - - Likely Pathogenic [Zhan, 2020] PDGFB_000034 Coppola Lab UCLA (EMR)
+?/. c.342_343insG 4 p.(Asn115Glufs*52) g.39627740_39627741insC - - - - Pathogenic [Sekine, 2019] PDGFB_000033 Coppola Lab UCLA (EMR)
?/? c.356T>C 4 p.(Leu119Pro) g.39627727A>G - rs397515632 yes - Likely Pathogenic [Keller, 2013] PDGFB_000012 Coppola Lab UCLA (EMR)
./. c.365C>T 4 p.(Pro122Leu) g.39627718G>A - - yes - Likely Pathogenic [Keogh, 2015] PDGFB_000020 Coppola Lab UCLA (EMR)
./. c.394G>C 4 p.(Gly132Arg) g.39627689C>G - - - - Likely Pathogenic [Ramos, 2018] PDGFB_000023 Coppola Lab UCLA (EMR)
./. c.425G>A 4 p.(Arg142His) g.39627658C>T - - - - Uncertain significance [Ramos, 2018] PDGFB_000024 Coppola Lab UCLA (EMR)
?/? c.433C>T 4 p.(Gln145*) g.39627650G>A - rs397515631 yes - Pathogenic [Keller, 2013] PDGFB_000013 Coppola Lab UCLA (EMR)
?/? c.439C>T 4 p.(Gln147*) g.39627644G>A - - ? - Pathogenic [Nicolas, 2014] PDGFB_000015 Coppola Lab UCLA (Andrea Legati)
?/? c.445C>T 4 p.(Arg149*) g.39627638G>A - rs397515633 yes - Pathogenic [Keller, 2013] PDGFB_000007 Coppola Lab UCLA (EMR)
?/? c.445C>T 4 p.(Arg149*) g.39627638G>A - rs397515633 yes - Pathogenic [Hayashi, 2015] PDGFB_000007 Coppola Lab UCLA (Andrea Legati)
./. c.445C>T 4 p.(Arg149*) g.39627638G>A - rs397515633 - - Pathogenic [Ramos, 2018] PDGFB_000007 Coppola Lab UCLA (EMR)
./. c.456+1G>A 4i p.? g.39627626C>T - - - - Pathogenic [Ramos, 2018] PDGFB_000025 Coppola Lab UCLA (EMR)
+/. c.457-1G>T 4i p.? g.39626234C>A - - yes - Pathogenic [Sekine, 2019] PDGFB_000031 Coppola Lab UCLA (EMR)
?/. c.602-1G>T 5i p.? g.39621853C>A - - - - Pathogenic [Koyama, 2017] PDGFB_000027 Coppola Lab UCLA (EMR)
?/. c.610C>A 6 p.(Pro204Thr) g.39621844G>T 0.000054290 - - - Uncertain significance [Yao, 2017] PDGFB_000029 Coppola Lab UCLA (EMR)
?/. c.610C>A 6 p.(Pro204Thr) g.39621844G>T 0.000053220 rs758645604 - - Uncertain significance [Chen, 2019b] PDGFB_000029 Coppola Lab UCLA (EMR)
./. c.724T>C 6 p.(*242Glnext*89) g.39621730A>G - - - - Pathogenic [Ramos, 2018] PDGFB_000026 Coppola Lab UCLA (EMR)
?/? c.726G>C 6 p.(*242Tyrext*89) g.39621728C>G - rs398122398 yes - Pathogenic [Keller, 2013] PDGFB_000014 Coppola Lab UCLA (EMR)
./. c.726G>C 6 p.(*242Tyrext*89) g.39621728C>G - rs398122398 - - Pathogenic [Ramos, 2018] PDGFB_000014 Coppola Lab UCLA (EMR)
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