Full data view for gene SNCA

A Parkinson's disease Mutation Database
Information The variants shown are described using the NM_000345.3 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ _1_6_ c.-263_*2529{2} r.? p.? Unknown - pathogenic (dominant) g.(?_90645250)_(90758350_?)dup g.(?_89724099)_(89837199_?)dup genomic duplication - SNCA_000004 - PubMed: Chartier-Harlin 2004 - - Germline - - - - - DNA PCRq - - PARK - PubMed: Chartier-Harlin 2004 1/9 families - - - - - - - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ _1_6_ c.-263_*2529{2} r.? p.? Unknown - pathogenic (dominant) g.(?_90645250)_(90758350_?)dup g.(?_89724099)_(89837199_?)dup genomic duplication - SNCA_000004 - PubMed: Ibanez 2004 - - Germline - - - - - DNA PCRq - - PARK - PubMed: Ibanez 2004 2/119 PD cases - - - - - - - - 2 The Parkinson's Institute - Birgitt Schuele
+/+ _1_6_ c.-263_*2529{2} r.? p.? Unknown - pathogenic (dominant) g.(?_90645250)_(90758350_?)dup g.(?_89724099)_(89837199_?)dup genomic duplication - SNCA_000004 confirmed with FISH PubMed: Nishioka 2006 PubMed: Obi 2008 - - Germline - 2/113 families - - - DNA PCRq - - PARK - PubMed: Nishioka 2006 PubMed: Obi 2008 familial AD-PD - - Japan - - - - - 2 The Parkinson's Institute - Birgitt Schuele
+/+ _1_6_ c.-263_*2529{2} r.? p.? Unknown - pathogenic (dominant) g.(?_90645250)_(90758350_?)dup g.(?_89724099)_(89837199_?)dup genomic duplication - SNCA_000004 - PubMed: Ikeuchi 2008 - - Germline - - - - - DNA PCRq - - PARK - PubMed: Ikeuchi 2008 1 hom, 3het - - - - - - - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ _1_6_ c.-263_*2529{2} r.? p.? Unknown - pathogenic (dominant) g.(?_90645250)_(90758350_?)dup g.(?_89724099)_(89837199_?)dup genomic duplication - SNCA_000004 - PubMed: Ahn et al - - Germline - - - - - DNA PCRq - - PARK - PubMed: Ahn et al 1 familial, 2 sporadic cases of 906 PD patients, each patient had asymptomatic carriers in their families. The familial case had early onset parkinsonism with rapidly progressive course, cognitive impairment, and dysautonomia. Sporadic cases were more typical of PD. - - Korea - - - - - 3 Krisztina Johansen
+/+ _1_6_ c.-263_*2529{2} r.? p.? Both (homozygous) - pathogenic (dominant) g.(?_90645250)_(90758350_?)dup g.(?_89724099)_(89837199_?)dup genomic duplication - SNCA_000004 - PubMed: Ikeuchi 2008 - - Germline - - - - - DNA PCRq - - PARK - PubMed: Ikeuchi 2008 Four-generation family, 3 patients were heterozygous for SNCA duplication and 1 patient was homozygous for SNCA duplication. The homozygous patient showed earlier age at onset and earlier death, with more severe cognitive impairment than the heterozygous patients. - - Japan - - - - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ _1_6_ c.-263_*2529{2} r.? p.? Unknown - pathogenic (dominant) g.(?_90645250)_(90758350_?)dup g.(?_89724099)_(89837199_?)dup genomic duplication - SNCA_000004 - PubMed: Brueggemann 2008 - - Germline - - - - - DNA PCRq - - PARK - PubMed: Brueggemann 2008 1/403; 0.25%, negative family history,early onset idiopathic PD, frontal release signs and bilateral horizontal gaze-evoked nystagmus, L-Dopa responsive F - Germany - - - - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ _1_6_ c.-263_*2529{2} r.? p.? Unknown - pathogenic (dominant) g.(?_90645250)_(90758350_?)dup g.(?_89724099)_(89837199_?)dup genomic duplication - SNCA_000004 - PubMed: Troiano 2008 - - Germline - - - - - DNA MLPA - - PARK - PubMed: Troiano 2008 1/101 early onset sporadic PD; European (84%), North African (4%) F - - - - - - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ _1_6_ c.-263_*2529{2} r.? p.? Unknown - pathogenic (dominant) g.(?_90645250)_(90758350_?)dup g.(?_89724099)_(89837199_?)dup genomic duplication - SNCA_000004 - PubMed: Uchiyama 2008 - - Germline - - - - - DNA PCRq - - PARK - PubMed: Uchiyama 2008 family (mother, son affected), psychiatric symptoms including attention impairment and visual hallucinations - - - Japanese - - - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ _1_6_ c.-263_*2529{2} r.? p.? Unknown - pathogenic (dominant) g.(?_90645250)_(90758350_?)dup g.(?_89724099)_(89837199_?)dup genomic duplication - SNCA_000004 - PubMed: Ibáñez 2009 - - Germline - - - - - DNA PCRq - - PARK - PubMed: Ibáñez 2009 4/264 (1.5%) typical ADPD, 2 patients published earlier in Ibanez et al 2004 and Chartier-Harlin et al 2004, - - - Mainly European - - - - 2 The Parkinson's Institute - Birgitt Schuele
+/+ _1_6_ c.-263_*2529{2} r.? p.? Unknown - pathogenic (dominant) g.(?_90645250)_(90758350_?)dup g.(?_89724099)_(89837199_?)dup genomic duplication - SNCA_000004 - PubMed: Nishioka 2009 - - Germline - - - - - DNA PCRq - - PARK - PubMed: Nishioka 2009 4 new families, 1 sporadic patient out of 103 consecutive patients with autosomal dominant PD, overall penetrance 43.8%, Family A and B previously reported - - Japan - - - - - 5 The Parkinson's Institute - Birgitt Schuele
+/+ _1_6_ c.-263_*2529{2} r.? p.? Maternal (inferred) - pathogenic (dominant) g.(?_90645250)_(90758350_?)dup g.(?_89724099)_(89837199_?)dup genomic duplication - SNCA_000004 - PubMed: Sironi 2009 - - Germline - - - - - DNA PCRq - - PARK - PubMed: Sironi 2009 1/144, patient showed rapidly progressive disease with early motor complications F - Italy - - - - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ _1_6_ c.-263_*2529{3} r.? p.? Unknown - pathogenic (dominant) g.(?_90645250)_(90758350_?)[3] g.(?_89724099)_(89837199_?)[3] genomic triplication - SNCA_000005 - PubMed: Singleton 2003 - - Germline - - - - - DNA PCRq - - PARK - PubMed: Singleton 2003 Iowa kindred - - - white - - - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ _1_6_ c.-263_*2529{3} r.? p.? Unknown - pathogenic (dominant) g.(?_90645250)_(90758350_?)[3] g.(?_89724099)_(89837199_?)[3] genomic triplication - SNCA_000005 - PubMed: Farrer 2004 - - Germline - - - - - DNA PCRq - - PARK - PubMed: Farrer 2004 linked to a family described by Mjones (1949); different branch of family found with duplication of the SNCA gene M - Sweden - - - - - 1 The Parkinson's Institute - Birgitt Schuele
+/+ _1_6_ c.-263_*2529{3} r.? p.? Unknown - pathogenic (dominant) g.(?_90645250)_(90758350_?)[3] g.(?_89724099)_(89837199_?)[3] genomic triplication - SNCA_000005 - PubMed: Ibáñez 2009 - - Germline - - - - - DNA PCRq - - PARK - PubMed: Ibáñez 2009 1/22 (4.5%) atypical AD parkinsonism- triplication - - - Mostly European - - - - 1 The Parkinson's Institute - Birgitt Schuele
?/. - c.44T>C r.(?) p.(Val15Ala) Unknown - VUS g.90756775A>G g.89835624A>G SNCA(NM_000345.3):c.44T>C (p.V15A), SNCA(NM_000345.4):c.44T>C (p.V15A) - SNCA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.44T>C r.(?) p.(Val15Ala) Unknown - likely pathogenic g.90756775A>G - SNCA(NM_000345.3):c.44T>C (p.V15A), SNCA(NM_000345.4):c.44T>C (p.V15A) - SNCA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.44T>C r.(?) p.(Val15Ala) Unknown - likely pathogenic g.90756775A>G - SNCA(NM_000345.3):c.44T>C (p.V15A), SNCA(NM_000345.4):c.44T>C (p.V15A) - SNCA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.88G>C r.(?) p.(Ala30Pro) Unknown - pathogenic (dominant) g.90756731C>G g.89835580C>G - - SNCA_000001 - PubMed: Kruger 1988 - - Germline - 2 affected, 1 carrier - - - DNA SEQ - - PARK - PubMed: Kruger 1988 - - - - - - - - - - The Parkinson's Institute - Birgitt Schuele
-/. - c.122-174_122-173del r.(=) p.(=) Unknown - benign g.90749508_90749509del g.89828357_89828358del SNCA(NM_000345.3):c.122-174_122-173delCT - SNCA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.136G>A r.(?) p.(Glu46Lys) Unknown - pathogenic (dominant) g.90749321C>T g.89828170C>T - - SNCA_000002 - PubMed: Zarranz 2004 - - Germline - 5 affected, 3 carrier - - - DNA SEQ - - ? - PubMed: Zarranz 2004 - - - - - - - - - - The Parkinson's Institute - Birgitt Schuele
-?/. - c.144G>C r.(?) p.(Val48=) Unknown - likely benign g.90749313C>G g.89828162C>G SNCA(NM_000345.3):c.144G>C (p.V48=) - SNCA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.152G>A r.(?) p.(Gly51Asp) Paternal (confirmed) - likely pathogenic (dominant) g.90749305C>T g.89828154C>T - - SNCA_000006 clinical features similar to p.A53T; segregated with family, not seen in >4,500 control individuals PubMed: Kiely 2013 - - Germline - - - - - DNA SEQ - - PARK - PubMed: Kiely 2013 - M - United Kingdom (Great Britain) - - - - LDopa responsive 1 The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.157G>A r.(?) p.(Ala53Thr) Unknown - pathogenic (dominant) g.90749300C>T g.89828149C>T - - SNCA_000003 combined with polymorphism S167N PubMed: Markopoulou 2008 - - Germline - 2 cases - - - DNA SEQ - - PARK - PubMed: Markopoulou 2008 - - - - - - - - - - The Parkinson's Institute - Birgitt Schuele
+/+ 3 c.157G>A r.(?) p.(Ala53Thr) Unknown - pathogenic (dominant) g.90749300C>T g.89828149C>T - - SNCA_000003 - PubMed: Polymeropoulos 1997 - - Germline - 2 cases - - - DNA SEQ - - PARK - PubMed: Polymeropoulos 1997 - - - - - - - - - - The Parkinson's Institute - Birgitt Schuele
?/. - c.215C>T r.(?) p.(Thr72Met) Unknown - VUS g.90743488G>A g.89822337G>A SNCA(NM_000345.3):c.215C>T (p.T72M) - SNCA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.216G>A r.(?) p.(Thr72=) Unknown - likely benign g.90743487C>T g.89822336C>T SNCA(NM_000345.3):c.216G>A (p.T72=), SNCA(NM_000345.4):c.216G>A (p.T72=) - SNCA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.216G>A r.(?) p.(Thr72=) Unknown - likely benign g.90743487C>T g.89822336C>T SNCA(NM_000345.3):c.216G>A (p.T72=), SNCA(NM_000345.4):c.216G>A (p.T72=) - SNCA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.306+79dup r.(=) p.(=) Unknown - benign g.90743319dup g.89822168dup SNCA(NM_000345.3):c.306+79dupG - SNCA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.310G>A r.(?) p.(Glu104Lys) Unknown - VUS g.90650425C>T g.89729274C>T - - SNCA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.370G>A r.(?) p.(Ala124Thr) Unknown - likely benign g.90650365C>T g.89729214C>T SNCA(NM_000345.3):c.370G>A (p.A124T) - SNCA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408C>T r.(?) p.(Tyr136=) Unknown - likely benign g.90647794G>A g.89726643G>A SNCA(NM_000345.3):c.408C>T (p.Y136=), SNCA(NM_000345.4):c.408C>T (p.Y136=) - SNCA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408C>T r.(?) p.(Tyr136=) Unknown - likely benign g.90647794G>A g.89726643G>A SNCA(NM_000345.3):c.408C>T (p.Y136=), SNCA(NM_000345.4):c.408C>T (p.Y136=) - SNCA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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