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

388 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. 41 c.?G>T - r.(?) p.(Glu1903*)
+/. 41 c.?G>T - r.(?) p.(Glu1903*)
-/. - c.-33G>T benign r.(=) p.(=)
-/. - c.-27-56A>C benign r.(=) p.(=)
-/. - c.-20G>A benign r.(=) p.(=)
+/. 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)
-?/. - c.99C>T likely benign r.(=) p.(=)
+/. 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.?
-?/. - c.181-9_181-8insT likely benign r.(=) p.(=)
?/. - c.226G>A VUS r.(?) p.(Ala76Thr)
?/. - c.232G>A VUS r.(?) p.(Glu78Lys)
-/. - c.251-11T>A benign r.(=) p.(=)
-/. - c.251-11T>A benign r.(=) p.(=)
-/. - c.251-10A>T benign r.(=) 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*)
?/. - c.341G>A VUS r.(?) p.(Arg114His)
+/. - c.367C>T pathogenic r.(?) p.(Gln123*)
+/+ 6 c.381_382delinsT - r.(381_382delinsu) p.(Lys127Asnfs*36)
+/. 6 c.381_382delinsT - r.(?) p.(Lys127Asnfs*36)
-/. - c.384T>C benign r.(=) p.(=)
+/. 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)
-/. - c.442-55del benign r.(=) p.(=)
-/. - c.442-22dup benign r.(=) p.(=)
-/. - c.442-19T>A benign r.(=) p.(=)
-/. - c.442-19T>A benign r.(=) p.(=)
-/. - c.442-11del benign r.(=) p.(=)
+/. - c.451C>T pathogenic r.(?) p.(Arg151*)
+/. 7 c.451C>T - r.(?) p.(Arg151*)
+/. 7 c.451C>T - r.(?) p.(Arg151*)
?/. - c.496-28A>G VUS r.(=) p.(=)
-?/. - c.503G>A likely benign r.(?) p.(Arg168His)
-/. - c.517-55G>A benign r.(=) p.(=)
?/. - c.523C>A VUS r.(?) p.(Gln175Lys)
+/. 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)
?/. - c.722A>G VUS r.(?) p.(Lys241Arg)
-?/. - c.739G>A likely benign r.(?) p.(Val247Ile)
-?/. - c.777A>G likely benign r.(=) p.(=)
-/. 10 c.829G>C - r.(?) p.(Glu277Gln)
-?/. - c.829G>C likely benign r.(?) p.(Glu277Gln)
-?/. - c.829G>C likely benign r.(?) p.(Glu277Gln)
?/. - c.838C>T VUS r.(?) p.(His280Tyr)
-/. - c.853-124_853-123insTAA benign r.(=) p.(=)
-/. - c.853-10dup benign r.(=) p.(=)
-?/. - c.853G>A likely benign r.(?) p.(Val285Met)
?/. 11 c.930A>G - r.(?) p.(=)
?/. - c.959A>G VUS r.(?) p.(Lys320Arg)
-?/. - c.963T>A likely benign r.(?) p.(Asp321Glu)
+/. 12i c.1066-1G>A - r.spl p.?
./. - c.1079G>A - r.(?) p.(Arg360Gln)
?/. - c.1079G>A VUS r.(?) p.(Arg360Gln)
-?/. - c.1092T>G likely benign r.(?) p.(Ile364Met)
?/. - c.1105G>A VUS r.(?) p.(Glu369Lys)
+/. 13i c.1189+1G>A - r.spl p.?
+/. 14 c.1219_1220del - r.(?) p.(Met407Glufs*14)
+/. - c.1219_1220del pathogenic 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)
?/. - c.1298A>G VUS r.(?) p.(Asp433Gly)
?/. - c.1298A>G VUS r.(?) p.(Asp433Gly)
+/. 14 c.1322T>A ACMG 5 r.(?) p.(Leu441*)
-?/. - c.1360-4T>G likely benign r.spl? p.?
+/. 15 c.1361del - r.(?) p.(Gly454Glufs*5)
-/. - c.1387G>A benign r.(?) p.(Val463Ile)
?/. - c.1403G>A VUS r.(?) p.(Cys468Tyr)
+/. 15 c.1419_1423del - r.(?) p.(Ile474Argfs*5)
+/. - c.1419_1423del pathogenic r.(?) p.(Ile474Argfs*5)
?/. - c.1436T>C VUS r.(?) p.(Ile479Thr)
+/+ 15 c.1451delA - r.(1451del) p.(Tyr484Leufs*27)
+/. - c.1501G>T pathogenic r.(?) p.(Glu501*)
+/. - c.1512_1515del pathogenic r.(?) p.(Arg504Serfs*10)
-/. - c.1522+6C>T benign r.(=) p.(=)
-/. - c.1522+6C>T benign r.(=) p.(=)
-?/. - c.1549T>C likely benign r.(=) p.(=)
+/. 16 c.1550del - r.(?) p.(Leu517*)
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