All transcript variants in gene LAMC2

Information The variants shown are described using the NM_005562.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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.283C>T pathogenic r.(?) p.(Arg95*) g.183184602C>T - LAMC2(NM_005562.2):c.283C>T (p.R95*) - LAMC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.297C>T benign r.(?) p.(=) g.183184616C>T - LAMC2(NM_005562.2):c.297C>T (p.S99=) - LAMC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.344G>A benign r.(?) p.(Arg115Gln) g.183184663G>A - LAMC2(NM_005562.2):c.344G>A (p.R115Q) - LAMC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.483C>T benign r.(?) p.(=) g.183187603C>T - LAMC2(NM_005562.2):c.483C>T (p.V161=) - LAMC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.493C>T VUS r.(?) p.(Arg165Cys) g.183187613C>T - LAMC2(NM_005562.2):c.493C>T (p.R165C) - LAMC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.798T>G benign r.(?) p.(=) g.183192304T>G - LAMC2(NM_005562.2):c.798T>G (p.G266=) - LAMC2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1510C>A VUS r.(?) p.(Pro504Thr) g.183197550C>A - LAMC2(NM_005562.2):c.1510C>A (p.P504T) - LAMC2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1899G>C likely benign r.(?) p.(=) g.183201363G>C - LAMC2(NM_005562.2):c.1899G>C (p.L633=) - LAMC2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.2198G>C benign r.(?) p.(Ser733Thr) g.183201970G>C - LAMC2(NM_005562.2):c.2198G>C (p.S733T) - LAMC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2422C>G likely benign r.(?) p.(Pro808Ala) g.183204831C>G - LAMC2(NM_005562.2):c.2422C>G (p.P808A) - LAMC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2570G>C likely benign r.(?) p.(Arg857Pro) g.183205708G>C - LAMC2(NM_005562.2):c.2570G>C (p.R857P) - LAMC2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.2688G>A benign r.(?) p.(=) g.183206573G>A - LAMC2(NM_005562.2):c.2688G>A (p.Q896=) - LAMC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.2881C>T pathogenic r.(?) p.(Gln961*) g.183208510C>T - LAMC2(NM_005562.2):c.2881C>T (p.Q961*) - LAMC2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.3206C>T likely benign r.(?) p.(Thr1069Met) g.183209311C>T - LAMC2(NM_005562.2):c.3206C>T (p.T1069M) - LAMC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.3448C>T VUS r.(?) p.(Arg1150Cys) g.183212401C>T - LAMC2(NM_005562.2):c.3448C>T (p.R1150C) - LAMC2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.3459G>A likely benign r.(?) p.(=) g.183212412G>A - LAMC2(NM_005562.2):c.3459G>A (p.R1153=) - LAMC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.3459G>A likely benign r.(?) p.(=) g.183212412G>A - LAMC2(NM_005562.2):c.3459G>A (p.R1153=) - LAMC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*13T>G benign r.(=) p.(=) g.183212548T>G - LAMC2(NM_005562.2):c.*13T>G - LAMC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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