Entrez Gene

Basic Information
Gene ID	4000
Name	LMNA
Synonymous	lamin A/C;LMNA;lamin A/C
Definition	70 kDa lamin\|lamin\|lamin A/C-like 1\|prelamin-A/C\|renal carcinoma antigen NY-REN-32
Position	1q22
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1765G>C; p.G589R; 1:156138554-156138554	skin	malignant_melanoma	Substitution - Missense
c.232A>G; p.K78E; 1:156115150-156115150	thyroid	other; neoplasm	Substitution - Missense
c.569G>A; p.R190Q; 1:156134458-156134458	breast	carcinoma	Substitution - Missense
c.1104C>T; p.A368A; 1:156136068-156136068	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1049C>T; p.A350V; 1:156136013-156136013	skin	malignant_melanoma	Substitution - Missense
c.814G>T; p.D272Y; 1:156135190-156135190	NS	NS	Substitution - Missense
c.812T>C; p.L271P; 1:156135188-156135188	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1700G>T; p.G567V; 1:156138489-156138489	breast	carcinoma	Substitution - Missense
c.312G>A; p.L104L; 1:156115230-156115230	skin	malignant_melanoma	Substitution - coding silent
c.628A>G; p.I210V; 1:156134517-156134517	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.672C>T; p.T224T; 1:156134837-156134837	liver	carcinoma	Substitution - coding silent
c.672C>T; p.T224T; 1:156134837-156134837	liver	carcinoma	Substitution - coding silent
c.1835C>T; p.S612F; 1:156138624-156138624	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.250G>A; p.E84K; 1:156115168-156115168	breast	carcinoma	Substitution - Missense
c.205G>A; p.V69M; 1:156115123-156115123	skin	malignant_melanoma	Substitution - Missense
c.1147G>A; p.E383K; 1:156136111-156136111	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1147G>A; p.E383K; 1:156136111-156136111	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1147G>A; p.E383K; 1:156136111-156136111	large_intestine; colon	carcinoma	Substitution - Missense
c.1147G>A; p.E383K; 1:156136111-156136111	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1170C>T; p.S390S; 1:156136226-156136226	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1067T>A; p.L356Q; 1:156136031-156136031	oesophagus	carcinoma	Substitution - Missense
c.372G>A; p.E124E; 1:156130632-156130632	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1698C>T; p.H566H; 1:156137743-156137743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1698C>T; p.H566H; 1:156137743-156137743	thyroid	other; neoplasm	Substitution - coding silent
c.811-3C>A; p.?; 1:156135184-156135184	ovary	carcinoma; serous_carcinoma	Unknown
c.927C>G; p.L309L; 1:156135303-156135303	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.356+2T>C; p.?; 1:156115276-156115276	pancreas	carcinoma; acinar_carcinoma	Unknown
c.892C>T; p.R298C; 1:156135268-156135268	large_intestine; colon	carcinoma	Substitution - Missense
c.456C>G; p.L152L; 1:156130716-156130716	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1871G>A; p.R624H; 1:156138660-156138660	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.887G>A; p.R296H; 1:156135263-156135263	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.887G>A; p.R296H; 1:156135263-156135263	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.265C>A; p.R89S; 1:156115183-156115183	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1027C>T; p.R343W; 1:156135991-156135991	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1300G>A; p.A434T; 1:156136356-156136356	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1300G>A; p.A434T; 1:156136356-156136356	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.438C>T; p.A146A; 1:156130698-156130698	breast	carcinoma	Substitution - coding silent
c.1412G>A; p.R471H; 1:156136952-156136952	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1464C>T; p.T488T; 1:156137004-156137004	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1975C>T; p.Q659*; 1:156139086-156139086	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1699G>T; p.G567C; 1:156138488-156138488	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1201C>T; p.R401C; 1:156136257-156136257	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1201C>T; p.R401C; 1:156136257-156136257	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.406G>A; p.D136N; 1:156130666-156130666	urinary_tract; bladder	carcinoma	Substitution - Missense
c.752A>G; p.Q251R; 1:156134917-156134917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1209C>T; p.S403S; 1:156136265-156136265	skin	malignant_melanoma	Substitution - coding silent
c.832G>C; p.A278P; 1:156135208-156135208	thyroid	other; neoplasm	Substitution - Missense
c.1748C>T; p.S583L; 1:156138537-156138537	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1444C>T; p.R482W; 1:156136984-156136984	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1752C>T; p.R584R; 1:156138541-156138541	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.991C>T; p.R331W; 1:156135955-156135955	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.24C>T; p.R8R; 1:156114942-156114942	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1740C>A; p.N580K; 1:156138529-156138529	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.768G>A; p.V256V; 1:156134933-156134933	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1638A>C; p.S546S; 1:156137683-156137683	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1930C>T; p.R644C; 1:156138719-156138719	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1431C>T; p.P477P; 1:156136971-156136971	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.767T>G; p.V256G; 1:156134932-156134932	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.80C>T; p.T27I; 1:156114998-156114998	skin	malignant_melanoma	Substitution - Missense
c.1184C>T; p.S395L; 1:156136240-156136240	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.688G>T; p.D230Y; 1:156134853-156134853	skin	malignant_melanoma	Substitution - Missense
c.1487C>T; p.T496M; 1:156137027-156137027	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1487C>T; p.T496M; 1:156137027-156137027	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.954G>A; p.A318A; 1:156135918-156135918	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.961C>T; p.R321*; 1:156135925-156135925	skin	malignant_melanoma	Substitution - Nonsense
c.906C>T; p.L302L; 1:156135282-156135282	skin	malignant_melanoma	Substitution - coding silent
c.727G>A; p.D243N; 1:156134892-156134892	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1691A>C; p.H564P; 1:156137736-156137736	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1901G>T; p.G634V; 1:156138690-156138690	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1901G>T; p.G634V; 1:156138690-156138690	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1691A>C; p.H564P; 1:156137736-156137736	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1901G>T; p.G634V; 1:156138690-156138690	large_intestine; colon	carcinoma	Substitution - Missense
c.1901G>T; p.G634V; 1:156138690-156138690	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1815C>T; p.A605A; 1:156138604-156138604	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.197C>T; p.S66F; 1:156115115-156115115	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.748G>A; p.A250T; 1:156134913-156134913	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.728A>G; p.D243G; 1:156134893-156134893	central_nervous_system; brain	glioma	Substitution - Missense
c.1820T>C; p.V607A; 1:156138609-156138609	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1718C>T; p.S573L; 1:156138507-156138507	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.918C>T; p.L306L; 1:156135294-156135294	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1123G>A; p.A375T; 1:156136087-156136087	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.36C>T; p.S12S; 1:156114954-156114954	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.181C>A; p.L61I; 1:156115099-156115099	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1127A>G; p.Y376C; 1:156136091-156136091	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1929C>T; p.T643T; 1:156138718-156138718	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.886C>T; p.R296C; 1:156135262-156135262	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1785C>T; p.A595A; 1:156138574-156138574	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.858G>A; p.G286G; 1:156135234-156135234	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.984C>T; p.A328A; 1:156135948-156135948	skin	malignant_melanoma	Substitution - coding silent
c.249C>T; p.A83A; 1:156115167-156115167	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.188T>C; p.I63T; 1:156115106-156115106	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1891G>A; p.G631S; 1:156138680-156138680	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.216C>A; p.R72R; 1:156115134-156115134	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1488+2T>G; p.?; 1:156137030-156137030	stomach	carcinoma; adenocarcinoma	Unknown

COSMIC somatic mutation [Top]