Transcript #00005773

Transcript name centrosome and spindle pole associated protein 1
Gene name CSPP1 (centrosome and spindle pole associated protein 1)
Chromosome 8
Transcript - NCBI ID NM_024790.6
Transcript - Ensembl ID -
Protein - NCBI ID NP_079066.5
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

83 entries on 1 page. Showing entries 1 - 83.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-12C>T benign r.(?) p.(=)
?/. - c.53C>T VUS r.(?) p.(Pro18Leu)
-/. - c.154T>C benign r.(?) p.(=)
-?/. - c.159C>T likely benign r.(?) p.(=)
?/. - c.212A>G VUS r.(?) p.(Lys71Arg)
+/. 4 c.363_364del - r.(?) p.(His121Glnfs22)
+/. 4 c.363_364del - r.(?) p.(His121Glnfs22)
+/. 4 c.363_364del - r.(?) p.(His121Glnfs22)
+?/. - c.409C>T likely pathogenic r.(?) p.(Gln137*)
+/. 5 c.457del - r.(?) p.(Arg153Glyfs*35)
+/. 6 c.652C>T - r.(?) p.(Gln218*)
+/. 6 c.658C>T - r.(?) p.(Arg220*)
+/. 6 c.658C>T - r.(?) p.(Arg220*)
+?/. 6i c.950+1G>C - r.spl p.?
?/. - c.992A>G VUS r.(?) p.(His331Arg)
-/. - c.1120+17C>T benign r.(=) p.(=)
+/. 9 c.1132C>T - r.(?) p.(Arg378*)
+?/. - c.1213C>T likely pathogenic r.(?) p.(Arg405*)
+/. 9 c.1214G>A - r1214_1215ins1214+1_1214+10 p.Arg405Glnfs*2
-?/. - c.1214+5T>C likely benign r.spl? p.?
-?/. - c.1273-7A>T likely benign r.(=) p.(=)
-/. - c.1376C>G benign r.(?) p.(Ser459Cys)
+/. - c.1482-2A>C pathogenic r.spl? p.?
-/. - c.1603+11T>C benign r.(=) p.(=)
?/. - c.1628A>C VUS r.(?) p.(Gln543Pro)
-?/. - c.1669G>A likely benign r.(?) p.(Ala557Thr)
?/. - c.1678G>A VUS r.(?) p.(Val560Ile)
?/. - c.1783C>G VUS r.(?) p.(Gln595Glu)
?/. - c.1930C>T VUS r.(?) p.(Pro644Ser)
?/. - c.1960+5G>A VUS r.spl? p.?
-?/. - c.1962T>C likely benign r.(?) p.(=)
-/. - c.1962T>C benign r.(?) p.(=)
-/. - c.1972A>G benign r.(?) p.(Arg658Gly)
-/. - c.2113+16_2113+17insCTGTAA benign r.(=) p.(=)
-/. - c.2113+32_2113+36del benign r.(=) p.(=)
-/. - c.2113+33_2113+36del benign r.(=) p.(=)
-/. - c.2113+34_2113+36del benign r.(=) p.(=)
-/. - c.2114-5T>C benign r.spl? p.?
+/. 18 c.2244_2245del - r.(?) p.(Glu750Glyfs*30)
+/. 18 c.2244_2245del - r.(?) p.(Glu750Glyfs*30)
+/. - c.2244_2247del ACMG: 5 r.(?) p.(Glu750Lysfs*7)
+/. 18 c.2244_2247del - r.(?) p.(Glu750Lysfs*7)
+/. 18 c.2244_2247del - r.(?) p.(Glu750Lysfs*7)
+/. 18 c.2260C>T - r.(?) p.(Arg754*)
+/. 18 c.2280del - r.(?) p.(Glu761Lysfs*35)
+/. 18 c.2280delA - r.(?) p.(Glu761Lysfs*35)
?/. - c.2299C>T VUS r.(?) p.(Arg767Trp)
+/. 18 c.2320C>T - r.(?) p.(Arg774*)
-?/. - c.2377-8_2377-4del likely benign r.spl? p.?
-?/. - c.2377-8_2377-4del likely benign r.spl? p.?
+/. 19 c.2441_2444del - r.(?) p.(Lys814Argfs*21)
+/. 19 c.2448_2454del - r.(?) p.(Glu817Lysfs*17)
+/. 19 c.2448_2454dup - r.(?) p.(Glu819Argfs*7)
-?/. - c.2524-12T>A likely benign r.(=) p.(=)
+/. 20 c.2527_2528del - r.(?) p.(Met843Glufs*25)
+/. 20 c.2527_2528del - r.(?) p.(Met843Glufs*25)
+/. 20 c.2527_2528del - r.(?) p.(Met843Glufs*25)
+/. 20 c.2527_2528delAT - r.(?) p.(Met843Glufs*25)
-/. - c.2575A>C benign r.(?) p.(Ser859Arg)
+/. 22 c.2708delA - r.(?) p.(Asn903Metfs*2)
-?/. - c.2789A>G likely benign r.(?) p.(Asp930Gly)
-?/. - c.2847T>C likely benign r.(?) p.(=)
+?/. 23i c.2953+1G>A - r.spl p.?
+?/. 23i c.2953+1G>A - r.spl p.?
+/. 23i c.2953+1G>A - r.spl? p.?
-/. - c.3095-11A>G benign r.(=) p.(=)
-/. - c.3142-15A>G benign r.(=) p.(=)
-?/. - c.3150T>C likely benign r.(?) p.(=)
+?/. 26i c.3205+1G>A - r.spl p.?
-/. - c.3205+13A>G benign r.(=) p.(=)
+/. 27 c.3212dup - r.(?) p.(Tyr1071*)
+/. 27 c.3212dup - r.(?) p.(Tyr1071*)
+/? 27 c.3212dup - r.(?) p.(Tyr1071*)
-/. - c.3270C>T benign r.(?) p.(=)
?/. - c.3281A>G VUS r.(?) p.(Glu1094Gly)
-?/. - c.3298T>C likely benign r.(?) p.(Trp1100Arg)
-/. - c.3339A>G benign r.(?) p.(=)
-?/. - c.3478C>T likely benign r.(?) p.(Pro1160Ser)
-?/. - c.3491T>C likely benign r.(?) p.(Met1164Thr)
-?/. - c.3585G>A likely benign r.(?) p.(=)
?/. - c.3623C>G VUS r.(?) p.(Pro1208Arg)
-?/. - c.*6A>G likely benign r.(=) p.(=)
?/. - c.*22516A>C VUS r.(=) p.(=)
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