Unique variants in the LRRK1 gene

Information The variants shown are described using the NM_024652.3 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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 - c.10A>G r.(?) p.(Met4Val) - likely benign g.101464847A>G - LRRK1(NM_024652.5):c.10A>G (p.M4V) - LRRK1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.99T>G r.(?) p.(=) - VUS g.101514010T>G - LRRK1(NM_024652.6):c.99T>G (p.(Gly33=)) - LRRK1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.184_185insGC r.(?) p.(Tyr62Cysfs*31) - VUS g.101514095_101514096insGC - LRRK1(NM_024652.6):c.184_185insGC (p.(Tyr62Cysfs*31)) - LRRK1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.418C>G r.(?) p.(Leu140Val) - VUS g.101523889C>G - LRRK1(NM_024652.6):c.418C>G (p.(Leu140Val)) - LRRK1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.592C>T r.(?) p.(Leu198=) - likely benign g.101528997C>T - LRRK1(NM_024652.5):c.592C>T (p.L198=) - LRRK1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.908A>G r.(?) p.(Asn303Ser) - likely benign g.101549187A>G g.101008982A>G LRRK1(NM_024652.5):c.908A>G (p.N303S) - LRRK1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1118-22_1118-8del r.(=) p.(=) - VUS g.101550857_101550871del - LRRK1(NM_024652.6):c.1118-22_1118-8del - LRRK1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.1118-3del r.spl? p.? - benign g.101550876del - LRRK1(NM_024652.6):c.1118-3delT - LRRK1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1120A>G r.(?) p.(Thr374Ala) - VUS g.101550881A>G g.101010676A>G - - LRRK1_000003 - PubMed: Morimoto 2018, Journal: Morimoto 2018 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1730A>G r.(?) p.(Tyr577Cys) - VUS g.101561378A>G - LRRK1(NM_024652.6):c.1730A>G (p.(Tyr577Cys)) - LRRK1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2484C>T r.(?) p.(=) - likely benign g.101567544C>T - LRRK1(NM_024652.6):c.2484C>T (p.D828=) - LRRK1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.2495C>T r.(?) p.(Thr832Ile) - likely benign g.101567555C>T - LRRK1(NM_024652.5):c.2495C>T (p.T832I) - LRRK1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2596G>A r.(?) p.(Asp866Asn) - likely benign g.101567912G>A - LRRK1(NM_024652.6):c.2596G>A (p.(Asp866Asn)) - LRRK1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.2687-2A>G r.spl p.? - VUS g.101569159A>G g.101028954A>G g.109740A>G - LRRK1_000006 - - - - Germline - - - - - Nada Al Tassan
?/. 1 - c.3438C>T r.(?) p.(=) - VUS g.101589987C>T - LRRK1(NM_024652.6):c.3438C>T (p.(Pro1146=)) - LRRK1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3913C>T r.(?) p.(Arg1305Trp) - VUS g.101593484C>T - LRRK1(NM_024652.6):c.3913C>T (p.(Arg1305Trp)) - LRRK1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.4054+6G>A r.(=) p.(=) - likely benign g.101593631G>A g.101053426G>A LRRK1(NM_024652.5):c.4054+6G>A - LRRK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4365C>T r.(?) p.(=) - likely benign g.101597093C>T - LRRK1(NM_024652.6):c.4365C>T (p.Y1455=) - LRRK1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.5104G>A r.(?) p.(Gly1702Ser) - likely benign g.101605746G>A - LRRK1(NM_024652.3):c.5104G>A (p.(Gly1702Ser)) - LRRK1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.5387C>A r.(?) p.(Pro1796His) - likely benign g.101606029C>A - LRRK1(NM_024652.3):c.5387C>A (p.(Pro1796His)) - LRRK1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.5440G>A r.(?) p.(Ala1814Thr) - likely benign, VUS g.101606082G>A g.101065877G>A LRRK1(NM_024652.6):c.5440G>A (p.(Ala1814Thr)) - LRRK1_000004 VKGL data sharing initiative Nederland PubMed: Morimoto 2018, Journal: Morimoto 2018 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Leiden
+/. 1 - c.5507del r.(?) p.(Thr1836Metfs*60) - pathogenic g.101606149del - LRRK1(NM_024652.6):c.5507delC (p.T1836Mfs*60) - LRRK1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.5718C>T r.(?) p.(His1906=) - likely benign g.101606360C>T g.101066155C>T LRRK1(NM_024652.5):c.5718C>T (p.H1906=) - LRRK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.5828G>A r.(?) p.(Arg1943Gln) - VUS g.101606904G>A - LRRK1(NM_024652.3):c.5828G>A (p.(Arg1943Gln)) - LRRK1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.5834T>C r.(?) p.(Ile1945Thr) - VUS g.101606910T>C - LRRK1(NM_024652.6):c.5834T>C (p.(Ile1945Thr)) - LRRK1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.5871-3C>T r.spl? p.? - likely benign g.101608873C>T - LRRK1(NM_024652.6):c.5871-3C>T - LRRK1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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