Transcript #00000021

Transcript name centrosomal protein 290kDa
Gene name CEP290 (centrosomal protein 290kDa)
Chromosome 12
Transcript - NCBI ID NM_025114.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_079390.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

188 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     
+/. 41 c.?G>T - r.(?) p.(Glu1903*)
+/. 41 c.?G>T - r.(?) p.(Glu1903*)
+/. 2 c.1A>G - r.(?) p.(Met1?)
+/. 2 c.2T>A - r.(?) p.0?
+/. 2 c.2T>A - r.(?) p.0?
+/. 2 c.21G>T - r.(?) p.(Trp7Cys)
+/. 2 c.21G>T - r.(?) p.(Trp7Cys)
+/. 2 c.21G>T - r.(?) p.(Trp7Cys)
+/. 2 c.21G>T - r.(?) p.(Trp7Cys)
+/. 2i c.103-13_103-18del - r.(?) p.?
+?/. 3 c.148C>T ACMG 3 r.(?) p.(His50Tyr)
+/. 3 c.148C>T - r.(?) p.(His50Tyr)
+/. 3 c.164_167del - r.(?) p.(Thr55Serfs*3)
+/. 3i c.180+1G>T - r.spl p.?
+/. 3i c.180+2T>A - r.spl p.?
+/. 3i c.180+2T>A - r.spl p.?
+?/+? 3i c.180+2T>A - r.spl? p.?
+/. 5 c.265dup - r.(?) p.(Thr89Asnfs*2)
+/. 5 c.287del - r.(?) p.(Asn96Metfs*29)
+/+ 5 c.289G>T - r.(289g>u) p.(Glu97*)
-/. 5i c.297+36A>G - r.? p.?
+/. 6 c.322C>T - r.(?) p.(Arg108*)
+/+ 6 c.381_382delinsT - r.(381_382delinsu) p.(Lys127Asnfs*36)
+/. 6 c.381_382delinsT - r.(?) p.(Lys127Asnfs*36)
+/. 6 c.384_385del - r.(?) p.(Asp128Glufs*17)
+/+ 6 c.384_387del - r.(384_387del) p.(Asp128Glufs*34)
+/. 6 c.384_387del - r.(?) p.(Asp128Glufs*34)
+/. 6 c.384_387del - r.(?) p.(Asp128Glufs*34)
+/. 6 c.437del - r.(?) p.(Glu146Glyfs*17)
+/. 7 c.451C>T - r.(?) p.(Arg151*)
+/. 7 c.451C>T - r.(?) p.(Arg151*)
+/. 9 c.566C>G - r.(?) p.(Ser189*)
+/+ 9 c.613C>T - r.(613c>u) p.(Arg205*)
+/. 9 c.613C>T - r.(?) p.(Arg205*)
+/. 9 c.613C>T - r.(?) p.(Arg205*)
+/. 10 c.679_680del - r.(?) p.(Glu227Serfs*2)
-/. 10 c.829G>C - r.(?) p.(Glu277Gln)
?/. 11 c.930A>G - r.(?) p.(=)
+/. 12i c.1066-1G>A - r.spl p.?
./. - c.1079G>A - r.(?) p.(Arg360Gln)
+/. 13i c.1189+1G>A - r.spl p.?
+/. 14 c.1219_1220del - r.(?) p.(Met407Glufs*14)
+/+ 14 c.1219_1220del - r.(1219_1220delau) p.(Met407Glufs*14)
+/. 14 c.1260_1264del - r.(?) p.(Lys421Glyfs*2)
+/. 14 c.1260_1264del - r.(?) p.(Lys421Glyfs*2)
+/. 14 c.1322T>A ACMG 5 r.(?) p.(Leu441*)
+/. 15 c.1361del - r.(?) p.(Gly454Glufs*5)
+/. 15 c.1419_1423del - r.(?) p.(Ile474Argfs*5)
+/+ 15 c.1451delA - r.(1451del) p.(Tyr484Leufs*27)
+/. 16 c.1550del - r.(?) p.(Leu517*)
+/. 16 c.1593C>A - r.(?) p.(Tyr531*)
+/. 16 c.1593C>A - r.(?) p.(Tyr531*)
+/. 17 c.1645C>T - r.(?) p.(Arg549*)
+?/. 17 c.1657del - r.(?) p.(Ile556Phefs*17)
+/. 17 c.1666del - r.(?) p.(Ile556Phefs*17)
+/. 17 c.1682_1683del - r.(?) p.(Gln561Argfs*14)
+/. 17 c.1709C>G - r.(?) p.(Ser570*)
+/. 17i c.1711+5A>G - r.spl? p.?
+/. 18 c.1824G>A - r.(?) p.(=)
-/. 18i c.1825-14_1825-13del - r.(spl?) p.(?)
+/. 19 c.1859_1862del - r.(?) p.(Arg621Ilefs*2)
+/. 19 c.1860_1861del - r.(?) p.(Asp622Phefs*5)
+/+ 19 c.1860_1861del - r.(1860_1861del) p.(Asp622Phefs*5)
+/. 19i c.1910-2A>C - r.spl p.?
+/. 20 c.1936C>T - r.(?) p.(Gln646*)
+/. 20 c.1975A>T - r.(?) p.(Lys659*)
+/. 20 c.1984C>T - r.(?) p.(Gln662*)
+/+ 20 c.1984C>T - r.(1984c>u) p.(Gln662*)
+/. 20 c.1985A>T - r.(?) p.(Gln662Leu)
+?/. 20 c.1991A>G - r.(?) p.(Asp664Gly)
?/. 20 c.1991A>G - r.(?) p.(Asp664Gly)
+/. 20 c.1992del - r.(?) p.(Pro665Leufs*10)
-/. 20i c.2052+30del - r.? p.?
-/. 21 c.2055T>C - r.(?) p.(=)
+/. 21 c.2118_2122dup - r.(?) p.(Thr709Serfs*9)
-/. 21i c.2217+45T>C - r.? p.?
+/. 21i_22 c.2218-15_2220del - r.spl p.?
+/. 21i_22 c.2218-4_2222del - r.spl p.?
+/. 21i_22 c.2218-4_2222del - r.spl p.?
+/. 21i c.2218-2A>C - r.spl p.?
+/. 22 c.2249T>G - r.(?) p.(Leu750*)
+/. 22 c.2249T>G - r.(?) p.(Leu750*)
+/. 22 c.2251C>T - r.(?) p.(Arg751*)
-/. 22 c.2268G>A - r.(?) p.(=)
?/. 22 c.2343T>C - r.(?) p.(=)
-/. 24 c.2512A>G - r.(?) p.(Lys838Glu)
./. - c.2615C>T - r.(?) p.(Ser872Leu)
+/. 25 c.2695C>T - r.(?) p.(Gln899*)
?/. 25 c.2717T>G - r.(?) p.(Leu906Trp)
+/. 26 c.2906dup - r.(?) p.(Tyr969*)
+/. 26i c.2991+1655A>G - r.(?) p.(Cys998*)
+/. 26i c.2991+1655A>G - r.(?) p.(Cys998*)
+/. 26i c.2991+1655A>G - r.(?) p.(Cys998*)
+/. 26i c.2991+1655A>G - r.(?) p.(Cys998*)
+/. 27 c.3043G>T - r.(?) p.(Glu1015*)
+/. 27i c.3104-2A>G - r.spl p.?
+/. 27i c.3104-1G>A - r.spl p.?
+/. 28 c.3175del - r.(?) p.(Ile1059*)
+/+ 28 c.3175delA - r.(3175dela) p.(Ile1059*)
+/. 28 c.3175dup - r.(?) p.(Ile1059Asnfs*11)
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