All variants in the CTSA gene

Information The variants shown are described using the NM_000308.2 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
Legend   How to query  

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.-4643C>T r.(?) p.(=) - likely benign g.44515322C>T g.45886683C>T SPATA25(NM_080608.3):c.518G>A (p.(Arg173Gln)) - CTSA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-4630C>T r.(?) p.(=) - likely benign g.44515335C>T g.45886696C>T SPATA25(NM_080608.3):c.505G>A (p.(Val169Ile)) - CTSA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-965C>T r.(?) p.(=) - likely benign g.44519000C>T - NEURL2(NM_001278535.1):c.631G>A (p.(Glu211Lys)) - CTSA_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-740dup r.(?) p.(=) - likely benign g.44519225dup g.45890586dup NEURL2(NM_001278535.1):c.406dup (p.(Ser136Lysfs*15)), NEURL2(NM_001278535.1):c.406dupA (p.S136Kfs*15) - NEURL2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-740dup r.(?) p.(=) - likely benign g.44519225dup g.45890586dup NEURL2(NM_001278535.1):c.406dup (p.(Ser136Lysfs*15)), NEURL2(NM_001278535.1):c.406dupA (p.S136Kfs*15) - NEURL2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.-322G>A r.(?) p.(=) - benign g.44519643G>A g.45891004G>A CTSA(NM_001127695.2):c.-422G>A - CTSA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.79C>T r.(?) p.(Leu27=) - likely benign g.44520232C>T g.45891593C>T CTSA(NM_001127695.2):c.25C>T (p.L9=) - CTSA_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.105del r.(?) p.(Leu36CysfsTer2) - VUS g.44520258del g.45891619del CTSA(NM_000308.2):c.105delG (p.(Leu36CysfsTer2)), CTSA(NM_001127695.2):c.51delG (p.L18Cfs*2) - CTSA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.105del r.(?) p.(Leu36CysfsTer2) - likely benign g.44520258del g.45891619del CTSA(NM_000308.2):c.105delG (p.(Leu36CysfsTer2)), CTSA(NM_001127695.2):c.51delG (p.L18Cfs*2) - CTSA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.105del r.(?) p.(Leu36CysfsTer2) - benign g.44520258del g.45891619del CTSA(NM_000308.2):c.105delG (p.(Leu36CysfsTer2)), CTSA(NM_001127695.2):c.51delG (p.L18Cfs*2) - CTSA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.105_110dup r.(?) p.(Leu36_Leu37dup) - VUS g.44520258_44520263dup g.45891619_45891624dup CTSA(NM_001127695.2):c.51_56dupGCTGCT (p.L18_L19dup) - CTSA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.107_108del r.(?) p.(Leu36ProfsTer121) - likely benign g.44520260_44520261del g.45891621_45891622del CTSA(NM_000308.2):c.107_108del (p.(Leu36ProfsTer121)) - CTSA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.108_110del r.(?) p.(Leu37del) - benign g.44520261_44520263del g.45891622_45891624del CTSA(NM_000308.2):c.85_87del (p.(Leu37del)), CTSA(NM_001127695.2):c.54_56delGCT (p.L19del) - CTSA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.108_110del r.(?) p.(Leu37del) - benign g.44520261_44520263del g.45891622_45891624del CTSA(NM_000308.2):c.85_87del (p.(Leu37del)), CTSA(NM_001127695.2):c.54_56delGCT (p.L19del) - CTSA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.108_110del r.(?) p.(Leu37del) - benign g.44520261_44520263del g.45891622_45891624del CTSA(NM_000308.2):c.85_87del (p.(Leu37del)), CTSA(NM_001127695.2):c.54_56delGCT (p.L19del) - CTSA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.108_110dup r.(?) p.(Leu37dup) - likely benign g.44520261_44520263dup g.45891622_45891624dup CTSA(NM_000308.2):c.84_85insCTG (p.(Phe28_Leu29insLeu)), CTSA(NM_001127695.2):c.54_56dupGCT (p.L19dup) - CTSA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.108_110dup r.(?) p.(Leu37dup) - likely benign g.44520261_44520263dup g.45891622_45891624dup CTSA(NM_000308.2):c.84_85insCTG (p.(Phe28_Leu29insLeu)), CTSA(NM_001127695.2):c.54_56dupGCT (p.L19dup) - CTSA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.108_110dup r.(?) p.(Leu37dup) - VUS g.44520261_44520263dup g.45891622_45891624dup CTSA(NM_000308.2):c.84_85insCTG (p.(Phe28_Leu29insLeu)), CTSA(NM_001127695.2):c.54_56dupGCT (p.L19dup) - CTSA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.139G>T r.(?) p.(Ala47Ser) - VUS g.44520292G>T - CTSA(NM_001127695.2):c.85G>T (p.A29S) - CTSA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.249-8C>T r.(=) p.(=) - likely benign g.44520547C>T - CTSA(NM_001127695.2):c.195-8C>T - CTSA_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.307G>A r.(?) p.(Gly103Ser) - likely pathogenic g.44520613G>A g.45891974G>A CTSA(NM_001127695.2):c.253G>A (p.G85S) - CTSA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/. - c.655-2A>G r.spl? p.? ACMG likely pathogenic g.44521857A>G g.45893218A>G - - CTSA_000001 - PubMed: Trujillano 2017 - - Germline - - - 0 - Daniel Trujillano
-/. - c.924-15del r.(=) p.(=) - benign g.44523447del g.45894808del CTSA(NM_001127695.2):c.870-15delC - CTSA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.934G>A r.(?) p.(Asp312Asn) - likely benign g.44523472G>A g.45894833G>A CTSA(NM_001127695.2):c.880G>A (p.D294N) - CTSA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.971C>A r.(?) p.(Thr324Asn) - VUS g.44523509C>A g.45894870C>A - - CTSA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1002+7G>A r.(=) p.(=) - benign g.44523547G>A g.45894908G>A CTSA(NM_001127695.2):c.948+7G>A - CTSA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.1044dup r.(?) p.(Cys349Leufs*56) - VUS g.44523674dup - CTSA(NM_001127695.2):c.990dupC (p.C331Lfs*56) - CTSA_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1142+10C>T r.(=) p.(=) - benign g.44523782C>T g.45895143C>T CTSA(NM_001127695.2):c.1088+10C>T - CTSA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.1177C>T r.(?) p.(Arg393*) - pathogenic g.44525638C>T - - - CTSA_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1309-4G>C r.spl? p.? - likely benign g.44526640G>C - CTSA(NM_001127695.2):c.1255-4G>C - CTSA_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1341G>A r.(?) p.(Lys447=) - likely benign g.44526676G>A g.45898037G>A CTSA(NM_001127695.2):c.1287G>A (p.K429=) - CTSA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1396G>A r.(?) p.(Ala466Thr) - likely benign g.44526731G>A g.45898092G>A CTSA(NM_001127695.2):c.1342G>A (p.A448T) - CTSA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1413+6G>T r.(=) p.(=) - likely benign g.44526754G>T g.45898115G>T CTSA(NM_001127695.2):c.1359+6G>T - CTSA_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*1380A>C r.(=) p.(=) - likely benign g.44528469A>C g.45899830A>C PLTP(NM_001242920.1):c.933+6T>G (p.(=)) - CTSA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*1382T>C r.(=) p.(=) - likely benign g.44528471T>C g.45899832T>C PLTP(NM_001242920.1):c.933+4A>G (p.?) - CTSA_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*3854G>A r.(=) p.(=) - likely benign g.44530943G>A g.45902304G>A PLTP(NM_001242920.1):c.853C>T (p.(Arg285Trp)) - PLTP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
Legend   How to query