All transcript variants in gene LRTOMT

Information The variants shown are described using the NM_001145309.3 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-75207A>G VUS r.(?) p.(=) g.71717267A>G - NUMA1(NM_001286561.1):c.5464T>C (p.Y1822H), NUMA1(NM_006185.2):c.5506T>C (p.(Tyr1836His)) - NUMA1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-75207A>G likely benign r.(?) p.(=) g.71717267A>G - NUMA1(NM_001286561.1):c.5464T>C (p.Y1822H), NUMA1(NM_006185.2):c.5506T>C (p.(Tyr1836His)) - NUMA1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-72062C>T VUS r.(?) p.(=) g.71720412C>T - NUMA1(NM_001286561.1):c.4699G>A (p.E1567K) - NUMA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-68372C>T VUS r.(?) p.(=) g.71724102C>T - NUMA1(NM_001286561.1):c.4447G>A (p.V1483I) - NUMA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-67880C>T VUS r.(?) p.(=) g.71724594C>T - NUMA1(NM_001286561.1):c.3955G>A (p.A1319T) - NUMA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-67330T>G likely benign r.(?) p.(=) g.71725144T>G - NUMA1(NM_006185.2):c.3405A>C (p.(Gln1135His)) - NUMA1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-67285G>C likely benign r.(?) p.(=) g.71725189G>C - NUMA1(NM_001286561.1):c.3360C>G (p.P1120=) - NUMA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-67190G>C likely benign r.(?) p.(=) g.71725284G>C - NUMA1(NM_001286561.1):c.3265C>G (p.Q1089E) - NUMA1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-66677G>A likely benign r.(?) p.(=) g.71725797G>A - NUMA1(NM_001286561.1):c.2752C>T (p.R918C) - NUMA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-66352T>A likely benign r.(?) p.(=) g.71726122T>A - NUMA1(NM_006185.2):c.2427A>T (p.(Glu809Asp)) - NUMA1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-66078A>G VUS r.(?) p.(=) g.71726396A>G - NUMA1(NM_001286561.1):c.2153T>C (p.L718P) - NUMA1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-66010C>T likely benign r.(?) p.(=) g.71726464C>T - NUMA1(NM_001286561.1):c.2085G>A (p.Q695=) - NUMA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-65355T>C likely benign r.(?) p.(=) g.71727119T>C - NUMA1(NM_001286561.1):c.1430A>G (p.N477S) - NUMA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-63643G>C likely benign r.(?) p.(=) g.71728831G>C - NUMA1(NM_001286561.1):c.1021C>G (p.L341V) - NUMA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-367G>A VUS r.(?) p.(=) g.71800166G>A - LRTOMT(NM_001271471.2):c.37G>A (p.E13K) - LRTOMT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.-155G>A pathogenic r.(?) p.(=) g.71804708G>A - LRTOMT(NM_001271471.2):c.249G>A (p.W83*) - LRTOMT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.34+373A>G benign r.(=) p.(=) g.71806515A>G - LRTOMT(NM_145309.5):c.528A>G (p.K176=) - LAMTOR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.191T>G VUS r.(?) p.(Val64Gly) g.71817089T>G - LRTOMT(NM_001145309.3):c.191T>G (p.V64G) - LAMTOR1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.230G>A likely benign r.(?) p.(Arg77Gln) g.71817128G>A - LRTOMT(NM_001145309.3):c.230G>A (p.R77Q) - LAMTOR1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.352G>A benign r.(?) p.(Val118Ile) g.71817250G>A - LRTOMT(NM_001145309.3):c.352G>A (p.V118I) - LAMTOR1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.358+4A>C likely pathogenic r.spl? p.? g.71817260A>C - - - LAMTOR1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.500G>A VUS r.(?) p.(Arg167His) g.71819110G>A - LRTOMT(NM_001145309.3):c.500G>A (p.R167H) - LAMTOR1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.503C>T likely benign r.(?) p.(Thr168Met) g.71819113C>T - LRTOMT(NM_001145309.3):c.503C>T (p.T168M) - LAMTOR1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.562C>T VUS r.(?) p.(Leu188Phe) g.71819657C>T - LRTOMT(NM_001145309.3):c.562C>T (p.L188F) - LAMTOR1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.623G>A benign r.(?) p.(Arg208Gln) g.71819718G>A - LRTOMT(NM_001145309.3):c.623G>A (p.R208Q) - LAMTOR1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.695C>T VUS r.(?) p.(Ala232Val) g.71819790C>T - LRTOMT(NM_001145309.3):c.695C>T (p.A232V) - LAMTOR1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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