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

75 entries on 1 page. Showing entries 1 - 75.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.2T>C r.(?) p.(Met1?)
?/. - c.2T>C r.(?) p.(Met1?)
?/. - c.2T>C r.(?) p.(Met1?)
-/. - c.4C>T r.(?) p.(Arg2Cys)
-/. - c.4C>T r.(?) p.(Arg2Cys)
-/. - c.4C>T r.(?) p.(Arg2Cys)
-/. - c.4C>T r.(?) p.(Arg2Cys)
?/. - c.7C>T r.(?) p.(Arg3Trp)
-?/. - c.22G>C r.(?) p.(Gly8Arg)
+/. - c.47_59del r.(?) p.(Gln16ProfsTer30)
-?/. - c.49G>C r.(?) p.(Gly17Arg)
-?/. - c.49G>C r.(?) p.(Gly17Arg)
-?/. - c.61C>T r.(?) p.(Pro21Ser)
?/. - c.61C>T r.(?) p.(Pro21Ser)
-?/. - c.61C>T r.(?) p.(Pro21Ser)
-?/. - c.61C>T r.(?) p.(Pro21Ser)
-?/. - c.65G>T r.(?) p.(Arg22Leu)
-/. - c.72A>G r.(?) p.(Gly24=)
-/. - c.72A>G r.(?) p.(Gly24=)
-?/. - c.117G>T r.(?) p.(Ser39=)
-/. - c.152C>T r.(?) p.(Ala51Val)
-?/. - c.152C>T r.(?) p.(Ala51Val)
-?/. - c.200_205dup r.(?) p.(Gly67_Ala68dup)
?/. - c.208C>T r.(?) p.(Arg70Trp)
-?/. - c.223T>C r.(?) p.(Trp75Arg)
-?/. - c.223T>C r.(?) p.(Trp75Arg)
-?/. - c.223T>C r.(?) p.(Trp75Arg)
-?/. - c.223T>C r.(?) p.(Trp75Arg)
-/. - c.234C>G r.(?) p.(Ala78=)
-/. - c.234C>G r.(?) p.(Ala78=)
+?/. 1 c.270G>A r.(?) p.(Trp90*)
+?/. 1 c.270G>A r.(?) p.(Trp90*)
-?/. - c.275G>A r.(?) p.(Arg92Gln)
-/. - c.320+8C>T r.(=) p.(=)
-/. - c.320+18C>T r.(=) p.(=)
-/. - c.320+18C>T r.(=) p.(=)
-/. - c.320+18C>T r.(=) p.(=)
-/. - c.320+18C>T r.(=) p.(=)
-?/. - c.321-168A>G r.(=) p.(=)
?/. - c.335G>A r.(?) p.(Arg112His)
+?/. 2 c.363del r.(?) p.(Lys122Serfs*41)
+?/. 2 c.439C>T r.(?) p.(Gln147*)
-?/. - c.528T>G r.(=) p.(=)
-?/. - c.528T>G r.(=) p.(=)
-/. - c.528T>G r.(?) p.(Thr176=)
-?/. - c.528T>G r.(?) p.(Thr176=)
+?/. - c.578G>A r.(?) p.(Cys193Tyr)
+/. - c.595C>T r.(?) p.(Arg199Ter)
+/. - c.595C>T r.(?) p.(Arg199Ter)
+?/. - c.595C>T r.(?) p.(Arg199Ter)
-?/. - c.606G>A r.(?) p.(Met202Ile)
-?/. - c.606G>A r.(?) p.(Met202Ile)
+?/. 3 c.657_661dup r.(?) p.(Asp221Valfs*12)
?/. - c.691G>A r.(?) p.(Val231Ile)
+?/. 3i c.712+1G>A r.spl? p.?
-/. - c.712+39C>A r.(=) p.(=)
-?/. - c.712+40A>C r.(=) p.(=)
-?/. - c.726C>A r.(?) p.(Asn242Lys)
-/. - c.726C>A r.(?) p.(Asn242Lys)
-?/. - c.726C>A r.(?) p.(Asn242Lys)
-?/. - c.765A>C r.(?) p.(Gly255=)
+?/. 4 c.822G>A r.(?) p.(Trp274*)
?/. - c.830C>T r.(?) p.(Ser277Phe)
+/. - c.835G>A r.(?) p.(Asp279Asn)
-?/. - c.1072T>C r.(?) p.(Leu358=)
-/. - c.1103A>G r.(?) p.(Lys368Arg)
-/. - c.1103A>G r.(?) p.(Lys368Arg)
-/. - c.1103A>G r.(?) p.(Lys368Arg)
-/. - c.1103A>G r.(?) p.(Lys368Arg)
-/. - c.1103A>G r.(?) p.(Lys368Arg)
?/. - c.1149G>T r.(?) p.(Met383Ile)
?/. - c.1166A>C r.(?) p.(Lys389Thr)
-?/. - c.1185C>T r.(?) p.(Ile395=)
-?/. - c.1188T>C r.(?) p.(Pro396=)
?/. - c.1192C>T r.(?) p.(Pro398Ser)
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