Transcript #00001721

Transcript name ceroid-lipofuscinosis, neuronal 5
Gene name CLN5 (ceroid-lipofuscinosis, neuronal 5)
Chromosome 13
Transcript - NCBI ID NM_006493.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_006484.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

57 entries on 1 page. Showing entries 1 - 57.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.2T>C likely benign r.(?) p.?
?/. - c.2T>C VUS r.(?) p.?
?/. - c.2T>C VUS r.(?) p.?
-/. - c.4C>T benign r.(?) p.(Arg2Cys)
-/. - c.4C>T benign r.(?) p.(Arg2Cys)
-/. - c.4C>T benign r.(?) p.(Arg2Cys)
-/. - c.4C>T benign r.(?) p.(Arg2Cys)
?/. - c.7C>T VUS r.(?) p.(Arg3Trp)
-?/. - c.22G>C likely benign r.(?) p.(Gly8Arg)
-?/. - c.49G>C likely benign r.(?) p.(Gly17Arg)
-?/. - c.49G>C likely benign r.(?) p.(Gly17Arg)
-?/. - c.61C>T likely benign r.(?) p.(Pro21Ser)
?/. - c.61C>T VUS r.(?) p.(Pro21Ser)
-?/. - c.61C>T likely benign r.(?) p.(Pro21Ser)
-?/. - c.61C>T likely benign r.(?) p.(Pro21Ser)
-?/. - c.65G>T likely benign r.(?) p.(Arg22Leu)
-/. - c.72A>G benign r.(?) p.(=)
-/. - c.72A>G benign r.(?) p.(=)
-?/. - c.117G>T likely benign r.(?) p.(=)
-/. - c.152C>T benign r.(?) p.(Ala51Val)
-?/. - c.152C>T likely benign r.(?) p.(Ala51Val)
-?/. - c.200_205dup likely benign r.(?) p.(Gly67_Ala68dup)
-?/. - c.223T>C likely benign r.(?) p.(Trp75Arg)
-?/. - c.223T>C likely benign r.(?) p.(Trp75Arg)
-?/. - c.223T>C likely benign r.(?) p.(Trp75Arg)
-/. - c.234C>G benign r.(?) p.(=)
-/. - c.234C>G benign r.(?) p.(=)
-/. - c.320+8C>T benign r.(=) p.(=)
-/. - c.320+18C>T benign r.(=) p.(=)
-/. - c.320+18C>T benign r.(=) p.(=)
-/. - c.320+18C>T benign r.(=) p.(=)
-/. - c.320+18C>T benign r.(=) p.(=)
-?/. - c.321-168A>G likely benign r.(=) p.(=)
-/. - c.528T>G benign r.(?) p.(=)
-?/. - c.528T>G likely benign r.(?) p.(=)
+?/. - c.578G>A likely pathogenic r.(?) p.(Cys193Tyr)
+/. - c.595C>T pathogenic r.(?) p.(Arg199*)
+/. - c.595C>T pathogenic r.(?) p.(Arg199*)
+?/. - c.595C>T likely pathogenic r.(?) p.(Arg199*)
-?/. - c.606G>A likely benign r.(?) p.(Met202Ile)
-?/. - c.606G>A likely benign r.(?) p.(Met202Ile)
?/. - c.691G>A VUS r.(?) p.(Val231Ile)
-/. - c.712+39C>A benign r.(=) p.(=)
-?/. - c.712+40A>C likely benign r.(=) p.(=)
-?/. - c.726C>A likely benign r.(?) p.(Asn242Lys)
-?/. - c.726C>A likely benign r.(?) p.(Asn242Lys)
-?/. - c.765A>C likely benign r.(?) p.(=)
-?/. - c.1072T>C likely benign r.(?) p.(=)
-/. - c.1103A>G benign r.(?) p.(Lys368Arg)
-/. - c.1103A>G benign r.(?) p.(Lys368Arg)
-/. - c.1103A>G benign r.(?) p.(Lys368Arg)
-/. - c.1103A>G benign r.(?) p.(Lys368Arg)
-/. - c.1103A>G benign r.(?) p.(Lys368Arg)
?/. - c.1149G>T VUS r.(?) p.(Met383Ile)
?/. - c.1166A>C VUS r.(?) p.(Lys389Thr)
-?/. - c.1185C>T likely benign r.(?) p.(=)
-?/. - c.1188T>C likely benign r.(?) p.(=)
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