Unique variants in the PARK7 gene

A Parkinson's disease Mutation Database
Information The variants shown are described using the NM_007262.4 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
Legend   How to query  

Effect     

Reported     

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     
-/- 1 _1 c.-99C>T r.(?) p.(=) - benign g.8021778C>T - g.18C>T - PARK7_000028 - PubMed: Hague 2003 - - Germline - 0.41 - - - The Parkinson's Institute - Birgitt Schuele
-/. 1 - c.-99T>C r.(?) p.(=) - benign g.8021778T>C g.7961718T>C - - PARK7_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 1i c.-24+77_-23-44del r.spl? p.? - VUS g.8021930_8022779del g.7961870_7962719del g.168_185del - PARK7_000002 - PubMed: Hague 2003 - - Germline - 0.15 (80 subjects) - - - The Parkinson's Institute - Birgitt Schuele
?/. 1 1i c.-24+77_-23-44dup r.spl? p.? - VUS g.8021930_8022779dup g.7961870_7962719dup g.168_185dup - PARK7_000003 double homozygote with DJ-1_g.168_185dup PubMed: Annesi 2005 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
-/- 1 1i c.-24+121G>T r.(?) p.(=) - benign g.8021974G>T - g.213G>T - PARK7_000027 - PubMed: Hague 2003 - - Germline - 0.15 (80 subjects) - - - The Parkinson's Institute - Birgitt Schuele
+?/+? 1 4i_7_ c.(252+1_253-1)_*228{0} r.? p.? - likely pathogenic g.(8029465_8030953)_(8045342_?)del - 253-?_(*225_?)del - PARK7_000022 - PubMed: Hedrich 2004 - - Germline - 1/100 EOPD - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 _1_5i c.-163_(322+1_333-1){0} r.0? p.0? - pathogenic g.(?_8021714)_(8031024_8037721)del - (?_-154)_322+?del - PARK7_000021 - PubMed: Bonifati 2003 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
?/. 1 - c.56C>T r.(?) p.(Thr19Met) - VUS g.8022901C>T - PARK7(NM_007262.5):c.56C>T (p.T19M) - PARK7_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 2 c.56_57delinsA r.(?) p.(Thr19Lysfs*5) - VUS g.8022901_8022902delinsA g.7962841_7962842delinsA [56delC;57G>A] - PARK7_000005 - PubMed: Hague 2003 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+?/+? 1 2 c.78G>A r.(?) p.(Met26Ile) - likely pathogenic g.8022923G>A g.7962863G>A - - PARK7_000006 - PubMed: Abou-Sleiman 2003 - - Germline - 0/1138 control chromosomes - - - The Parkinson's Institute - Birgitt Schuele
+?/+? 1 3 c.115G>T r.(?) p.(Ala39Ser) - likely pathogenic g.8025408G>T g.7965348G>T - - PARK7_000025 combined with PINK1:P399L PubMed: Tang 2006 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+?/+? 1 3 c.192G>C r.(?) p.(Glu64Asp) - likely pathogenic g.8025485G>C g.7965425G>C - - PARK7_000007 - PubMed: Hering 2004 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
?/. 1 - c.211G>T r.(?) p.(Val71Phe) - VUS g.8029423G>T g.7969363G>T PARK7(NM_007262.5):c.211G>T (p.V71F) - PARK7_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., ?/. 5 4 c.234C>T r.(?) p.(Gly78=) - benign, VUS g.8029446C>T g.7969386C>T PARK7(NM_001123377.1):c.234C>T (p.G78=), PARK7(NM_007262.5):c.234C>T (p.G78=) - PARK7_000008 compound heterozygote with p.G78G, VKGL data sharing initiative Nederland PubMed: Abou-Sleiman 2003, PubMed: Hague 2003 - - CLASSIFICATION record, Germline - 1/40 Afro-Caribbean - - - VKGL-NL_Rotterdam, The Parkinson's Institute - Birgitt Schuele, VKGL-NL_Groningen, VKGL-NL_VUmc
-?/. 1 - c.252+8dup r.(=) p.(=) - likely benign g.8029472dup g.7969412dup PARK7(NM_001123377.1):c.252+8dupA, PARK7(NM_007262.4):c.252+8dupA - PARK7_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/-, -/. 2 4i c.252+30T>G r.(=), r.(?) p.(=), p.? - benign g.8029494T>G g.7969434T>G PARK7(NM_001123377.1):c.252+30T>G - PARK7_000009 VKGL data sharing initiative Nederland PubMed: Hague 2003 - - CLASSIFICATION record, Germline - 0.23 (80 subjects) - - - VKGL-NL_Rotterdam, The Parkinson's Institute - Birgitt Schuele
-/- 1 4i c.253-31C>T r.(?) p.? - benign g.8030923C>T g.7970863C>T - - PARK7_000010 - PubMed: Hague 2003 - - Germline - 1/160 chromosomes - - - The Parkinson's Institute - Birgitt Schuele
-/-, -/., -?/., ?/. 6 5 c.293G>A r.(?) p.(Arg98Gln) - benign, likely benign, VUS g.8030994G>A g.7970934G>A PARK7(NM_001123377.1):c.293G>A (p.R98Q), PARK7(NM_007262.5):c.293G>A (p.R98Q) - PARK7_000011 VKGL data sharing initiative Nederland PubMed: Abou-Sleiman 2003, PubMed: Clark 2004, PubMed: Hedrich 2004 - - CLASSIFICATION record, Germline - 3% (n=196) - - - VKGL-NL_Rotterdam, The Parkinson's Institute - Birgitt Schuele, VKGL-NL_Groningen, VKGL-NL_VUmc
?/. 1 5 c.294G>T r.(?) p.(Arg98=) - VUS g.8030995G>T g.7970935G>T - - PARK7_000012 - PubMed: Abou-Sleiman 2003 - - Germline - 2/380 chrosomes - - - The Parkinson's Institute - Birgitt Schuele
?/. 2 5 c.310G>A r.(?) p.(Ala104Thr) - VUS g.8031011G>A g.7970951G>A - - PARK7_000013 - PubMed: Clark 2004, PubMed: Hague 2003 - - Germline - 1/160 chromosomes - - - The Parkinson's Institute - Birgitt Schuele
+/+ 1 5i c.322+2_322+12del r.spl p.? - pathogenic g.8031025_8031035del - 322+2-12del - PARK7_000014 - PubMed: Hedrich 2004 - - Germline - 1/100 EOPD - - - The Parkinson's Institute - Birgitt Schuele
-?/. 1 - c.322+5C>T r.spl? p.? - likely benign g.8031028C>T g.7970968C>T PARK7(NM_007262.4):c.322+5C>T - PARK7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 1 5i c.322+31G>A r.(?) p.? - benign g.8031054G>A g.7970994G>A - - PARK7_000015 - PubMed: Hague 2003 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
+?/+? 1 6i c.410-1G>C r.spl p.? - likely pathogenic g.8044953G>C g.7984893G>C - - PARK7_000016 - PubMed: Hague 2003 - - Germline - 1/107 - - - The Parkinson's Institute - Birgitt Schuele
?/. 1 7 c.446A>C r.(?) p.(Asp149Ala) - VUS g.8044990A>C g.7984930A>C - - PARK7_000017 compound heterozygote with p.G78G PubMed: Abou-Sleiman 2003 - - Germline - - - - - The Parkinson's Institute - Birgitt Schuele
?/. 1 - c.466C>T r.(?) p.(Arg156Trp) - VUS g.8045010C>T g.7984950C>T PARK7(NM_007262.5):c.466C>T (p.R156W) - PARK7_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/., ?/. 3 - c.471_473del r.(?) p.(Pro158del) - pathogenic, VUS g.8045015_8045017del g.7984955_7984957del PARK7(NM_001123377.1):c.471_473delGCC (p.P158del), PARK7(NM_007262.5):c.471_473delGCC (p.P158del) - PARK7_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
-?/. 1 - c.474T>C r.(?) p.(Pro158=) - likely benign g.8045018T>C g.7984958T>C PARK7(NM_007262.5):c.474T>C (p.P158=) - PARK7_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.486C>T r.(?) p.(Phe162=) - likely benign g.8045030C>T g.7984970C>T PARK7(NM_007262.4):c.486C>T (p.F162=) - PARK7_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, ?/. 2 7 c.487G>A r.(?) p.(Glu163Lys) - pathogenic, VUS g.8045031G>A g.7984971G>A - - PARK7_000018 double homozygote with DJ-1_g.168_185dup, 1 more item PubMed: Annesi 2005, PubMed: Narang 2020, Journal: Narang 2020 - rs74315354 Germline - 2/2795 individuals - - - The Parkinson's Institute - Birgitt Schuele, Mohammed Faruq
+/+, +/. 2 7 c.497T>C r.(?) p.(Leu166Pro) - pathogenic g.8045041T>C g.7984981T>C PARK7(NM_001123377.1):c.497T>C (p.L166P) - PARK7_000019 VKGL data sharing initiative Nederland PubMed: Bonifati 2003 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, The Parkinson's Institute - Birgitt Schuele
-?/., ?/. 3 7 c.501A>G r.(?) p.(Ala167=) - likely benign, VUS g.8045045A>G g.7984985A>G PARK7(NM_007262.4):c.501A>G (p.A167=) - PARK7_000020 VKGL data sharing initiative Nederland PubMed: Abou-Sleiman 2003, PubMed: Pankratz 2006 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, The Parkinson's Institute - Birgitt Schuele
?/. 1 - c.502A>G r.(?) p.(Ile168Val) - VUS g.8045046A>G g.7984986A>G PARK7(NM_007262.4):c.502A>G (p.I168V) - PARK7_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 7 c.511G>T r.(?) p.A(la171Ser) - VUS g.8045055G>T - 510G>T - PARK7_000026 - PubMed: Clark 2004 - - Germline - 1/202 controls - - - The Parkinson's Institute - Birgitt Schuele
-?/. 1 - c.535G>A r.(?) p.(Ala179Thr) - likely benign g.8045079G>A g.7985019G>A PARK7(NM_007262.5):c.535G>A (p.A179T) - PARK7_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.559C>T r.(?) p.(Leu187Phe) - likely benign g.8045103C>T - PARK7(NM_007262.4):c.559C>T (p.L187F) - PARK7_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 7 c.*119_*120insA r.(?) p.(=) - VUS g.8045233_8045234insA - *120InsA - PARK7_000023 - PubMed: Abou-Sleiman 2003 - - Germline - 1/380 chromosomes - - - The Parkinson's Institute - Birgitt Schuele
?/. 1 7 c.*203G>A r.(?) p.? - VUS g.8045317G>A g.7985257G>A - - PARK7_000024 - PubMed: Abou-Sleiman 2003 - - Germline - 1/380 chromosomes - - - The Parkinson's Institute - Birgitt Schuele
Legend   How to query