Transcript #00000074

Transcript name CDK5 regulatory subunit associated protein 2, transcript variant 1
Gene name CDK5RAP2 (CDK5 regulatory subunit associated protein 2)
Chromosome 9
Transcript - NCBI ID NM_018249.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_060719.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

97 entries on 1 page. Showing entries 1 - 97.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-19T>C benign r.(?) p.(=)
-/. - c.-19T>C benign r.(?) p.(=)
-/. - c.-19T>C benign r.(?) p.(=)
-/. - c.-3G>T benign r.(?) p.(=)
-/. - c.-3G>T benign r.(?) p.(=)
-/. - c.-3G>T benign r.(?) p.(=)
-?/. - c.51C>T likely benign r.(?) p.(=)
+/. - c.59+1G>T pathogenic r.spl? p.?
?/. - c.128-147A>G - r.(=) p.(=)
?/. - c.239G>A VUS r.(?) p.(Arg80His)
?/. - c.307-208A>G - r.(=) p.(=)
-/. - c.307-4G>A benign r.spl? p.?
-/. - c.480A>C benign r.(?) p.(=)
-/. - c.480A>C benign r.(?) p.(=)
-/. - c.507+12A>G benign r.(=) p.(=)
?/. - c.524_528del VUS r.(?) p.(Gln175Argfs*42)
?/. - c.660C>A VUS r.(?) p.(Asp220Glu)
?/. - c.817G>A VUS r.(?) p.(Glu273Lys)
-/. - c.865G>C benign r.(?) p.(Glu289Gln)
-/. - c.865G>C benign r.(?) p.(Glu289Gln)
-/. - c.865G>C benign r.(?) p.(Glu289Gln)
-/. - c.879+26G>T benign r.(=) p.(=)
-/. - c.880-7A>G benign r.(=) p.(=)
+/. - c.951del pathogenic r.(?) p.(Asp317Glufs*7)
-?/. - c.985T>A likely benign r.(?) p.(Ser329Thr)
-?/. - c.986C>A likely benign r.(?) p.(Ser329*)
-?/. - c.991G>A likely benign r.(?) p.(Glu331Lys)
-/. - c.1093-27A>G benign r.(=) p.(=)
-/. - c.1093-14G>A benign r.(=) p.(=)
+/. - c.1093-2A>G pathogenic r.spl? p.?
-?/. - c.1139C>T likely benign r.(?) p.(Ser380Leu)
+/. - c.1149_1153dup pathogenic r.(?) p.(Ser385Cysfs*26)
-?/. - c.1218G>A likely benign r.(?) p.(=)
?/. - c.1339C>G VUS r.(?) p.(Arg447Gly)
?/. - c.1376del VUS r.(?) p.(Asn459Ilefs*7)
?/. - c.1379G>A VUS r.(?) p.(Arg460His)
-?/. - c.1406A>G likely benign r.(?) p.(Asn469Ser)
-/. - c.1483-29T>G benign r.(=) p.(=)
-/. - c.1483-27T>G benign r.(=) p.(=)
?/. - c.1498G>C VUS r.(?) p.(Asp500His)
-/. - c.1727+15C>G benign r.(=) p.(=)
+/. - c.1728-2A>C pathogenic r.spl? p.?
-?/. - c.1859-6G>T likely benign r.(=) p.(=)
+?/. - c.1865C>G ACMG: 4 r.(?) p.(Ser622*)
-/. - c.2107-82del benign r.(=) p.(=)
-/. - c.2107-82dup benign r.(=) p.(=)
?/. - c.2255C>T VUS r.(?) p.(Thr752Met)
-/. - c.2274T>C benign r.(?) p.(=)
-/. - c.2274T>C benign r.(?) p.(=)
-/. - c.2274T>C benign r.(?) p.(=)
-?/. - c.2289C>T likely benign r.(?) p.(=)
?/. - c.2294C>G VUS r.(?) p.(Pro765Arg)
-?/. - c.2643C>T likely benign r.(?) p.(=)
-?/. - c.2655C>G likely benign r.(?) p.(Phe885Leu)
?/. - c.2809C>T VUS r.(?) p.(Arg937Cys)
-?/. - c.3002C>T likely benign r.(?) p.(Thr1001Met)
-?/. - c.3003G>A likely benign r.(?) p.(=)
-?/. - c.3006C>G likely benign r.(?) p.(=)
-/. - c.3065G>A benign r.(?) p.(Gly1022Glu)
-/. - c.3065G>A benign r.(?) p.(Gly1022Glu)
-/. - c.3134G>C benign r.(?) p.(Arg1045Thr)
-/. - c.3134G>C benign r.(?) p.(Arg1045Thr)
-?/. - c.3278G>C likely benign r.(?) p.(Ser1093Thr)
-?/. - c.3558C>T likely benign r.(?) p.(=)
+/. - c.3851T>A pathogenic r.(?) p.(Leu1284*)
?/. - c.3866A>T VUS r.(?) p.(Asp1289Val)
-/. - c.4041G>A benign r.(?) p.(=)
-/. - c.4041G>A benign r.(?) p.(=)
?/. - c.4259G>T VUS r.(?) p.(Arg1420Leu)
-?/. - c.4325C>T likely benign r.(?) p.(Ser1442Leu)
?/. - c.4415-161A>G - r.(=) p.(=)
?/. - c.4415-161A>G - r.(=) p.(=)
?/. - c.4517A>G VUS r.(?) p.(Glu1506Gly)
?/. - c.4546G>T VUS r.(?) p.(Glu1516*)
-?/. - c.4605-11G>C likely benign r.(=) p.(=)
-/. - c.4618G>C benign r.(?) p.(Val1540Leu)
-/. - c.4618G>C benign r.(?) p.(Val1540Leu)
-/. - c.4618G>C benign r.(?) p.(Val1540Leu)
?/. - c.4727-192G>C - r.(=) p.(=)
-?/. - c.4730C>T likely benign r.(?) p.(Ala1577Val)
+/. - c.4879del pathogenic r.(?) p.(Ala1627Glnfs*50)
-?/. - c.4898G>C likely benign r.(?) p.(Gly1633Ala)
+?/. - c.4963+1G>A likely pathogenic r.spl? p.?
-?/. - c.5241C>T likely benign r.(?) p.(=)
-?/. - c.5285C>T likely benign r.(?) p.(Thr1762Ile)
-?/. - c.5308-6G>T likely benign r.(=) p.(=)
-?/. - c.5355G>A likely benign r.(?) p.(=)
-?/. - c.5355G>A likely benign r.(?) p.(=)
?/. - c.5362C>A VUS r.(?) p.(Leu1788Met)
-/. - c.5418C>T benign r.(?) p.(=)
-/. - c.5418C>T benign r.(?) p.(=)
-/. - c.5454T>G benign r.(?) p.(Ile1818Met)
-?/. - c.5517G>A likely benign r.(?) p.(=)
-?/. - c.5578T>C likely benign r.(?) p.(=)
-/. - c.5578+29C>G benign r.(=) p.(=)
?/. - c.5602C>T VUS r.(?) p.(Arg1868Trp)
?/. - c.5662C>G VUS r.(?) p.(Pro1888Ala)
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