Transcript #00000132

Transcript name Niemann-Pick disease, type C1
Gene name NPC1 (Niemann-Pick disease, type C1)
Chromosome 18
Transcript - NCBI ID NM_000271.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000262.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

255 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-22A>C benign r.(?) p.(=)
-/. - c.-22A>C benign r.(?) p.(=)
+/. 1i c.57+4A>G - r.spl? p.?
-?/. - c.66A>G likely benign r.(?) p.(=)
-?/. - c.66A>G likely benign r.(?) p.(=)
-?/. - c.127G>A likely benign r.(?) p.(Glu43Lys)
+/. - c.160dup - r.(?) p.(Asp54Glyfs*4)
+/. - c.160dup - r.(?) p.(Asp54Glyfs*4)
?/. - c.180G>T VUS r.(?) p.(Gln60His)
-?/. - c.181-88A>G likely benign r.(=) p.(=)
+?/. - c.275A>G likely pathogenic r.(?) p.(Gln92Arg)
-?/. - c.288-44A>T likely benign r.(=) p.(=)
+/. - c.306T>G pathogenic r.(?) p.(Tyr102*)
+/. - c.352_353del pathogenic r.(?) p.(Gln119Valfs*8)
+/. 4 c.352_353del - r.(?) p.(Gln119Valfs*8)
-/. - c.387T>C benign r.(?) p.(=)
-/. - c.387T>C benign r.(?) p.(=)
-/. - c.387T>C benign r.(?) p.(=)
-/. - c.387T>C benign r.(?) p.(=)
-?/. - c.388G>A likely benign r.(?) p.(Val130Ile)
?/. - c.445G>A VUS r.(?) p.(Gly149Arg)
?/. - c.445G>A VUS r.(?) p.(Gly149Arg)
-?/. - c.463+19A>G likely benign r.(=) p.(=)
-?/. - c.463+19A>G likely benign r.(=) p.(=)
-?/. - c.471C>T likely benign r.(?) p.(=)
?/. - c.494C>A - r.(?) p.(Ala165Asp)
+?/. - c.494C>A likely pathogenic r.(?) p.(Ala165Asp)
-/. - c.540C>T benign r.(?) p.(=)
-?/. - c.540C>T likely benign r.(?) p.(=)
?/. - c.541G>A VUS r.(?) p.(Ala181Thr)
?/. - c.547G>A VUS r.(?) p.(Ala183Thr)
-?/. - c.547G>A likely benign r.(?) p.(Ala183Thr)
-?/. - c.612C>T likely benign r.(?) p.(=)
-?/. - c.612C>T likely benign r.(?) p.(=)
-?/. - c.612C>T likely benign r.(?) p.(=)
?/. - c.631G>T VUS r.(?) p.(Asp211Tyr)
-/. - c.644A>G benign r.(?) p.(His215Arg)
-/. - c.644A>G benign r.(?) p.(His215Arg)
-/. - c.644A>G benign r.(?) p.(His215Arg)
-/. - c.644A>G benign r.(?) p.(His215Arg)
-/. - c.644A>G benign r.(?) p.(His215Arg)
-?/. - c.665A>G likely benign r.(?) p.(Asn222Ser)
?/. 6 c.665A>G - r.(?) p.(Asn222Ser)
?/. 6 c.665A>G - r.(?) p.(Asn222Ser)
?/. - c.665A>G VUS r.(?) p.(Asn222Ser)
?/. - c.665A>G VUS r.(?) p.(Asn222Ser)
-?/. - c.665A>G likely benign r.(?) p.(Asn222Ser)
?/. - c.668C>T VUS r.(?) p.(Ala223Val)
-/. - c.709C>T benign r.(?) p.(Pro237Ser)
-/. - c.709C>T benign r.(?) p.(Pro237Ser)
-?/. - c.709C>T likely benign r.(?) p.(Pro237Ser)
-/. - c.709C>T benign r.(?) p.(Pro237Ser)
?/. - c.775C>A VUS r.(?) p.(Pro259Thr)
?/. - c.805T>C VUS r.(?) p.(Tyr269His)
+/. 6i c.882-28A>G - r.882_955del p.Lys295Argfs*
-?/. - c.956-7C>T likely benign r.(=) p.(=)
?/. - c.959A>G VUS r.(?) p.(Glu320Gly)
-/. - c.966C>T benign r.(?) p.(=)
-?/. - c.966C>T likely benign r.(?) p.(=)
-?/. - c.1011G>T likely benign r.(?) p.(=)
-?/. - c.1011G>T likely benign r.(?) p.(=)
-/. - c.1011G>T benign r.(?) p.(=)
-/. - c.1071G>A benign r.(?) p.(=)
-?/. - c.1071G>A likely benign r.(?) p.(=)
-?/. - c.1117G>A likely benign r.(?) p.(Val373Ile)
+/. 8 c.1156A>G - r.(?) p.(Ser386Gly)
+?/. - c.1211G>A likely pathogenic r.(?) p.(Arg404Gln)
-?/. - c.1232G>A likely benign r.(?) p.(Arg411Gln)
?/. - c.1274C>T VUS r.(?) p.(Ser425Leu)
-/. - c.1300C>T benign r.(?) p.(Pro434Ser)
-/. - c.1300C>T benign r.(?) p.(Pro434Ser)
-?/. - c.1302G>A likely benign r.(?) p.(=)
-/. - c.1326+72C>T benign r.(=) p.(=)
-?/. - c.1480G>A likely benign r.(?) p.(Val494Met)
-?/. - c.1503C>T likely benign r.(?) p.(=)
-?/. - c.1503C>T likely benign r.(?) p.(=)
-/. - c.1532C>T benign r.(?) p.(Thr511Met)
-?/. - c.1532C>T likely benign r.(?) p.(Thr511Met)
?/. - c.1552C>T VUS r.(?) p.(Arg518Trp)
+?/. - c.1553G>A likely pathogenic r.(?) p.(Arg518Gln)
-?/. - c.1553+18A>G likely benign r.(=) p.(=)
+?/. - c.1574A>T likely pathogenic r.(?) p.(Asp525Val)
-?/. - c.1581T>A likely benign r.(?) p.(Ser527Arg)
+/. - c.1628C>T pathogenic r.(?) p.(Pro543Leu)
?/. - c.1654+5G>A VUS r.spl? p.?
?/. - c.1858G>A VUS r.(?) p.(Asp620Asn)
+/. 12 c.1892T>G - r.(?) p.(Met631Arg)
-?/. - c.1899A>G likely benign r.(?) p.(=)
+?/. - c.1918G>A likely pathogenic r.(?) p.(Gly640Arg)
+/. - c.1918G>A pathogenic r.(?) p.(Gly640Arg)
-/. 12 c.1926G>A - r.1926g>a p.Met642Ile
-/. - c.1926G>C benign r.(?) p.(Met642Ile)
?/. - c.1926G>C VUS r.(?) p.(Met642Ile)
-/. - c.1926G>C benign r.(?) p.(Met642Ile)
-/. - c.1926G>C benign r.(?) p.(Met642Ile)
-/. - c.1926G>C benign r.(?) p.(Met642Ile)
-?/. - c.1937G>A likely benign r.(?) p.(Arg646His)
-?/. - c.1947+7_1947+8insCG likely benign r.(=) p.(=)
-?/. - c.1947+7_1947+8insCGGG likely benign r.(=) p.(=)
-?/. - c.1947+7_1947+8insCGGG likely benign r.(=) p.(=)
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