All variants in the CTSC gene

Information The variants shown are described using the NM_001814.4 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.22C>T r.(?) p.(Leu8=) - likely benign g.88070819G>A g.88337651G>A CTSC(NM_148170.4):c.22C>T (p.L8=) - CTSC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.38T>C r.(?) p.(Leu13Pro) - VUS g.88070803A>G g.88337635A>G CTSC(NM_148170.4):c.38T>C (p.L13P) - CTSC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.90C>T r.(?) p.(Cys30=) - likely benign g.88070751G>A - CTSC(NM_001814.4):c.90C>T (p.C30=) - CTSC_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.173-7dup r.(=) p.(=) - benign g.88068269dup g.88335101dup CTSC(NM_001814.4):c.173-7dupT, CTSC(NM_148170.4):c.173-7dupT, CTSC(NM_148170.5):c.173-7dupT - CTSC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.173-7dup r.(=) p.(=) - benign g.88068269dup g.88335101dup CTSC(NM_001814.4):c.173-7dupT, CTSC(NM_148170.4):c.173-7dupT - CTSC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.173-7dup r.(=) p.(=) - likely benign g.88068269dup g.88335101dup CTSC(NM_001814.4):c.173-7dupT, CTSC(NM_148170.4):c.173-7dupT - CTSC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.173-6C>A r.(=) p.(=) - likely benign g.88068256G>T g.88335088G>T CTSC(NM_001814.4):c.173-6C>A - CTSC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.173-6C>T r.(=) p.(=) - benign g.88068256G>A g.88335088G>A CTSC(NM_148170.4):c.173-6C>T - CTSC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.259A>G r.(?) p.(Ile87Val) - VUS g.88068164T>C - CTSC(NM_148170.4):c.259A>G (p.I87V) - CTSC_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.318+6733C>T r.(=) p.(=) - likely benign g.88061372G>A - CTSC(NM_148170.4):c.319-8C>T - CTSC_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.326A>G r.(?) p.(Glu109Gly) - likely benign g.88045715T>C g.88312547T>C CTSC(NM_001814.4):c.326A>G (p.E109G) - CTSC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.373T>C r.(?) p.(Trp125Arg) - VUS g.88045668A>G g.88312500A>G CTSC(NM_001814.4):c.373T>C (p.W125R) - CTSC_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.402G>A r.(?) p.(Trp134Ter) - pathogenic g.88045639C>T - CTSC(NM_001814.4):c.402G>A (p.W134*) - CTSC_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.415G>A r.(?) p.(Gly139Arg) - VUS g.88045626C>T - - - CTSC_000021 - - - - Unknown - - - 0 - Gunnar Schmidt
-/. - c.458= r.(=) p.(Thr153=) - benign g.88045583A>G g.88312415A>G CTSC(NM_001814.4):c.458T>C (p.I153T) - CTSC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.458= r.(=) p.(Thr153=) - likely benign g.88045583A>G g.88312415A>G CTSC(NM_001814.4):c.458T>C (p.I153T) - CTSC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.459A>G r.(?) p.(Thr153=) - likely benign g.88045582T>C g.88312414T>C CTSC(NM_001814.4):c.459A>G (p.T153=) - CTSC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.493A>T r.(?) p.(Asn165Tyr) - likely benign g.88042479T>A g.88309311T>A CTSC(NM_001814.4):c.493A>T (p.N165Y) - CTSC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.565A>G r.(?) p.(Thr189Ala) - likely benign g.88042407T>C g.88309239T>C CTSC(NM_001814.4):c.565A>G (p.T189A) - CTSC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.641+13A>G r.(=) p.(=) - likely benign g.88042318T>C g.88309150T>C CTSC(NM_001814.4):c.641+13A>G - CTSC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.815G>A r.(?) p.(Arg272His) - likely pathogenic g.88029375C>T - - - CTSC_000022 - - - - Unknown - - - 0 - Gunnar Schmidt
+/. 7 c.899G>A r.(?) p.(Gly300Asp) - pathogenic g.88027667C>T g.88294499C>T - - CTSC_000001 not in 512 control chromosomes PubMed: Erzurumluoglu 2015, Journal: Erzurumluoglu 2015 - - Germline yes - - 0 - A. Mesut Erzurumluoglu
-?/. - c.933C>G r.(?) p.(Ala311=) - likely benign g.88027633G>C g.88294465G>C CTSC(NM_001814.4):c.933C>G (p.A311=) - CTSC_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1146C>T r.(?) p.(His382=) - likely benign g.88027420G>A g.88294252G>A CTSC(NM_001814.4):c.1146C>T (p.H382=) - CTSC_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1201G>A r.(?) p.(Glu401Lys) - VUS g.88027365C>T g.88294197C>T CTSC(NM_001814.4):c.1201G>A (p.E401K) - CTSC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1201G>A r.(?) p.(Glu401Lys) - VUS g.88027365C>T - CTSC(NM_001814.4):c.1201G>A (p.E401K) - CTSC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1318C>T r.(?) p.(Arg440Trp) - VUS g.88027248G>A g.88294080G>A CTSC(NM_001814.4):c.1318C>T (p.R440W) - CTSC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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