Transcript #00020030 (NM_025237.2, SOST gene)

Transcript name sclerostin
Gene name SOST (sclerostin)
Chromosome 17
Transcript - NCBI ID NM_025237.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_079513.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

39 entries on 1 page. Showing entries 1 - 39.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 2 c.(0) r.0 p.0
?/. - c.28G>A r.(?) p.(Val10Ile)
-?/. - c.28G>A r.(?) p.(Val10Ile)
+/. 1 c.70C>T r.(?) p.Gln24*
-/. 1 c.70C>T r.(?) p.Gln24*
+/. - c.87dup r.(?) p.(Lys30Glnfs*3)
+/. 1 c.87dup r.(?) p.(Lys30Glnfs*3)
?/. - c.101C>T r.(?) p.(Thr34Met)
-?/. - c.159C>T r.(?) p.(Asn53=)
+?/. - c.184G>A r.(?) p.(Gly62Arg)
+/. 1i c.220+1G>T r.spl? p.del?
+/. 1i c.220+1G>T r.spl? p.del?
+/. 1i c.220+1G>T r.spl? p.del?
+/. 1i c.220+1G>T r.spl? p.del?
+/. 1i c.220+1G>T r.220_221insTins220+2_220+214 p.Asp74fs*
+/. 1i c.220+3A>T r.(spl?) p.(del?)
+/. 1i c.220+3A>T r.(spl?) p.(del?)
+/. 1i c.220+3A>T r.220_221insGTTins220+4_220+214 p.Asp74fs*
+/. 1i c.220+3A>T r.spl p.(Asp74GlyfsX)
+/. 1i c.220+3A>T r.spl p.(Asp74Glyfs*)
+/. 1i c.220+3A>T r.spl p.(Asp74Glyfs*)
-/. 1i c.221-67A>C r.= p.=
-/. 1i c.221-67A>C r.(?) p.(=)
-/. 1i c.221-67A>C r.(?) p.(=)
-/. 1i c.221-67A>C r.(?) p.(=)
+/. 2 c.372G>A r.(?) p.(Trp124*)
+/. 2 c.372G>A r.(?) p.(Trp124*)
+/. 2 c.372G>A r.(?) p.(Trp124*)
+/. 2 c.372G>A r.(?) p.(Trp124*)
+/. 2 c.372G>A r.(?) p.(Trp124*)
+/. 2 c.372G>A r.(?) p.(Trp124*)
+/. 2 c.376C>T r.(?) p.(Arg126*)
+/. 2 c.376C>T r.(?) p.(Arg126*)
+/. 2_ c.*36262_*87979del r.(0) p.(0)
+/. 2_ c.*36262_*87979del r.(0) p.(0)
+/. 2_ c.*36262_*87979del r.(0) p.(0)
+/. 2_ c.*36262_*87979del r.(0) p.(0)
+/. 2_ c.*36262_*87979del r.(0) p.(0)
+/. 2_ c.*36262_*87979del r.(0) p.(0)
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