All transcript variants in gene LCAT

Information The variants shown are described using the NM_000229.1 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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.35C>T likely benign r.(?) p.(Thr12Met) g.67977970G>A - LCAT:c.35C>T (T12M) - LCAT_000133 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.80T>C VUS r.(?) p.(Leu27Pro) g.67977925A>G - LCAT:c.80T>C (L27P) - LCAT_000132 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/? 1 c.86A>T pathogenic r.(?) p.(Asn29Ile) g.67977919T>A - - - LCAT_000002 - - - - Unknown - - - 0 - M. Mahdi Motazacker
+/. - c.101C>A pathogenic r.(?) p.(Pro34Gln) g.67977904G>T - LCAT:c.101C>A (P34Q) - LCAT_000130 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.101C>T pathogenic r.(?) p.(Pro34Leu) g.67977904G>A - LCAT:c.101C>T (P34L) - LCAT_000131 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.102G>A benign r.(=) p.(=) g.67977903C>T - LCAT:c.102G>A (=) - LCAT_000129 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.138_139del pathogenic r.(?) p.(Arg47Alafs*55) g.67977866_67977867del - LCAT:c.138_139delAC (R47Afs*55) - LCAT_000128 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.167T>C pathogenic r.(?) p.(Leu56Pro) g.67977103A>G - LCAT:c.167T>C (L56P) - LCAT_000127 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.209T>C VUS r.(?) p.(Val70Ala) g.67977061A>G - LCAT:c.209T>C (V70A) - LCAT_000126 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/? 2 c.296G>C pathogenic r.(?) p.(Trp99Ser) g.67976974C>G - - - LCAT_000004 - - - - Unknown - - - 0 - M. Mahdi Motazacker
-/. - c.312-10del benign r.(=) p.(=) g.67976889del - LCAT:c.312-10delC - LCAT_000125 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.312-7C>T benign r.(=) p.(=) g.67976886G>A - LCAT:c.312-7C>T - LCAT_000124 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.312-5C>G benign r.spl? p.? g.67976884G>C - LCAT:c.312-5C>G - LCAT_000123 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.340G>A benign r.(?) p.(Val114Met) g.67976851C>T - LCAT:c.340G>A (V114M) - LCAT_000122 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.368G>A likely pathogenic r.(?) p.(Arg123His) g.67976823C>T - LCAT:c.368G>A (R123H) - LCAT_000121 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.369C>T benign r.(=) p.(=) g.67976822G>A - LCAT:c.369C>T (=) - LCAT_000120 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.382G>A VUS r.(?) p.(Gly128Ser) g.67976809C>T - LCAT:c.382G>A (G128S) - LCAT_000119 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.398T>C likely pathogenic r.(?) p.(Val133Ala) g.67976793A>G - LCAT:c.398T>C (V133A) - LCAT_000118 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/? 3 c.402_403delinsTA pathogenic r.(?) p.(Glu134_Tyr135delinsAspAsn) g.67976788_67976789delinsTA - 402G>T;403T>A - LCAT_000001 - - - - Unknown - - - 0 - M. Mahdi Motazacker
+/. 4 c.440C>T - r.440c>u p.Thr147Ile g.67976657G>A g.67942754G>A C2182T (T123I) - LCAT_000010 - PubMed: Kuivenhoven 1996 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.440C>T pathogenic r.(?) p.(Thr147Ile) g.67976657G>A - LCAT:c.440C>T (T147I) - LCAT_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/? 4 c.440C>T pathogenic r.(?) p.(Thr147Ile) g.67976657G>A - - - LCAT_000010 - - - - Unknown - - - 0 - M. Mahdi Motazacker
+/? 4 c.440C>T pathogenic r.(?) p.(Thr147Ile) g.67976657G>A - - - LCAT_000010 - - - - Unknown - - - 0 - M. Mahdi Motazacker
-/. - c.523+15G>A benign r.(=) p.(=) g.67976559C>T - LCAT:c.523+15G>A - LCAT_000117 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 4i c.524-22T>C - r.523_524ins[523+1_524-23;c;524-21_524-1] p.Gln176Glufs*6 g.67976512A>G g.67942609A>G T2327C IVS4-22 - LCAT_000101 variant not in 336 control chromosomes; branchpoint variant; effect confirmed using mini-gene expression PubMed: Kuivenhoven 1996 - - Germline yes - - 0 - Johan den Dunnen
-/. - c.576C>T benign r.(=) p.(=) g.67976438G>A - LCAT:c.576C>T (=) - LCAT_000116 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.591G>A benign r.(=) p.(=) g.67976423C>T - LCAT:c.591G>A (=) - LCAT_000115 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.605T>C pathogenic r.(?) p.(Ile202Thr) g.67976409A>G - LCAT:c.605T>C (I202T) - LCAT_000114 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.694T>A benign r.(?) p.(Ser232Thr) g.67976320A>T - LCAT:c.694T>A (S232T) - LCAT_000113 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.698T>C pathogenic r.(?) p.(Leu233Pro) g.67976316A>G - LCAT:c.698T>C (L233P) - LCAT_000112 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/? 5 c.736G>T pathogenic r.(?) p.(Val246Phe) g.67976278C>A - - - LCAT_000005 - - - - Unknown - - - 0 - M. Mahdi Motazacker
-/. - c.786G>A benign r.(=) p.(=) g.67974344C>T - LCAT:c.786G>A (=) - LCAT_000111 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/? 6 c.802C>T pathogenic r.(?) p.(Arg268Cys) g.67974328G>A - - - LCAT_000006 - - - - Unknown - - - 0 - M. Mahdi Motazacker
?/. - c.809C>T VUS r.(?) p.(Thr270Ile) g.67974321G>A - LCAT:c.809C>T (T270I) - LCAT_000110 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.821C>T likely pathogenic r.(?) p.(Pro274Leu) g.67974309G>A - LCAT:c.821C>T (P274L) - LCAT_000109 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.879C>T likely benign r.(=) p.(=) g.67974251G>A - LCAT:c.879C>T (=) - LCAT_000108 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.899G>A likely benign r.(?) p.(Arg300His) g.67974231C>T - LCAT:c.899G>A (R300H) - LCAT_000107 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/? 6 c.945G>A pathogenic r.(?) p.(Trp315*) g.67974185C>T - - - LCAT_000007 - - - - Unknown - - - 0 - M. Mahdi Motazacker
+/. - c.964C>T pathogenic r.(?) p.(Arg322Cys) g.67974166G>A - LCAT:c.964C>T (R322C) - LCAT_000106 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/? 6 c.964C>T pathogenic r.(?) p.(Arg322Cys) g.67974166G>A - - - LCAT_000003 - - - - Unknown - - - 0 - M. Mahdi Motazacker
-?/. - c.981A>C likely benign r.(=) p.(=) g.67974149T>G - LCAT:c.981A>C (=) - LCAT_000105 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/? 6 c.1012C>T pathogenic r.(?) p.(Leu338Phe) g.67974118G>A - - - LCAT_000008 - - - - Unknown - - - 0 - M. Mahdi Motazacker
+/. - c.1039C>T pathogenic r.(?) p.(Arg347Cys) g.67974091G>A - LCAT:c.1039C>T (R347C) - LCAT_000104 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/? 6 c.1039C>T pathogenic r.(?) p.(Arg347Cys) g.67974091G>A - - - LCAT_000009 - - - - Unknown - - - 0 - M. Mahdi Motazacker
+/? 6 c.1039C>T pathogenic r.(?) p.(Arg347Cys) g.67974091G>A - - - LCAT_000009 - - - - Unknown - - - 0 - M. Mahdi Motazacker
-/. - c.1056C>T benign r.(=) p.(=) g.67974074G>A - LCAT:c.1056C>T (=) - LCAT_000103 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1132G>A likely benign r.(?) p.(Glu378Lys) g.67973998C>T - LCAT:c.1132G>A (E378K) - LCAT_000102 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
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