Transcript #00015899 (NM_002608.2, PDGFB gene)

Transcript name transcript variant 1
Gene name PDGFB (platelet-derived growth factor beta polypeptide)
Chromosome 22
Transcript - NCBI ID NM_002608.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002599.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

37 entries on 1 page. Showing entries 1 - 37.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 1 c.3G>A r.(?) p.0?
+/. 1 c.26T>G r.(?) p.(Leu9Arg)
-?/. - c.35G>T r.(?) p.(Cys12Phe)
?/. - c.64-6C>A r.(=) p.(=)
?/. - c.64-5G>A r.spl? p.?
+?/. 1i c.64-3C>G r.64_160del p.Gly22Argfs*9
+/. - c.79G>T r.(?) p.(Glu27Ter)
+/. - c.129_130insGT r.(?) p.(Leu44ValfsTer20)
-/. - c.160+15C>A r.(=) p.(=)
-/. - c.160+15C>A r.(=) p.(=)
-?/. - c.160+20C>G r.(=) p.(=)
-?/. - c.174C>T r.(?) p.(Ala58=)
-?/. - c.251-6T>G r.(=) p.(=)
-?/. - c.270G>A r.(?) p.(Glu90=)
-?/. - c.273G>A r.(?) p.(Pro91=)
-?/. - c.273G>A r.(?) p.(Pro91=)
?/. 4 c.283G>A r.(?) p.(Ala95Thr)
-?/. - c.313G>A r.(?) p.(Glu105Lys)
?/. 4 c.328C>G r.(?) p.(Leu110Val)
+/. 4 c.356T>C r.(?) p.(Leu119Pro)
?/. - c.415G>A r.(?) p.(Val139Met)
-?/. - c.429C>T r.(?) p.(Pro143=)
+/. 4 c.433C>T r.(?) p.(Gln145*)
+?/. 4 c.439C>T r.439c>u p.Gln147*
+/. 4 c.445C>T r.(?) p.(Arg149*)
-/. - c.453C>G r.(?) p.(Val151=)
-/. - c.453C>G r.(?) p.(Val151=)
?/. - c.456+5G>A r.spl? p.?
-?/. - c.469G>A r.(?) p.(Glu157Lys)
-?/. - c.588C>G r.(?) p.(Ser196=)
?/. - c.607_616dup r.(?) p.(Thr206Asnfs*29)
-/. - c.635C>T r.(?) p.(Thr212Met)
-/. - c.635C>T r.(?) p.(Thr212Met)
-?/. - c.657C>A r.(?) p.(Pro219=)
?/. - c.670C>T r.(?) p.(Arg224Trp)
-?/. - c.700G>A r.(?) p.(Ala234Thr)
+/. 6 c.726G>C r.(?) p.(*242Tyrext*89)
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