LOVD - Variant listings for LMNA

About this overview [Show]

Patient data (#0017744)
Phenotype -
Phenotype additional -
Reference JdD
Remarks -
Geographic origin Canada
Ethnic origin -
Gender -
Inheritance unknown
Consanguinity -
Fam_Pat -
# reported 94
CK level -
Protein data -
Submitter Johan den Dunnen

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity Unknown
Exon 6i
DNA change c.1158-44C>T   (View in UCSC Genome Browser, Ensembl)
Var_pub_as -
RNA change r.(=)
Protein change p.(=)
DB-ID LMNA_00169
Variant remarks 47 healthy elderly (>85y)
Genet_ori germline (inherited)
Segregation -
Reference Halaschek-Wiener 2009
Template DNA
Technique SEQ
Frequency 1/94
RE-site -

27 entries in LMNA

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Genet_ori Descending
Ascending
Segregation Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
-/? Unknown - c.-1242T>C - r.(=) p.(=) LMNA_00236 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 30/94 -
-/? Unknown - c.-1214T>C - r.(=) p.(=) LMNA_00235 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 2/94 -
-/? Unknown - c.-845dupC - r.(=) p.(=) LMNA_00237 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 1/94 -
-/? Unknown 1i c.356+310T>C - r.(=) p.(=) LMNA_00245 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 3/94 -
-/? Unknown 1i c.357-1788A>G - r.(=) p.(=) LMNA_00243 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 3/94 -
-/? Unknown 1i c.357-1718G>A - r.(=) p.(=) LMNA_00244 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 2/94 -
-/? Unknown 1i c.357-359C>A - r.(=) p.(=) LMNA_00240 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 2/94 -
-/? Unknown 1i c.357-269T>C - r.(=) p.(=) LMNA_00239 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 2/94 -
-/? Unknown 1i c.357-171dupG - r.(=) p.(=) LMNA_00249 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 2/94 -
-/? Unknown 2 c.357C>T - r.(?) p.(=) LMNA_00225 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 1/94 -
-/? Unknown 2i c.513+175T>C - r.(=) p.(=) LMNA_00246 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 3/94 -
-/? Unknown 3i c.639+56G>T - r.(=) p.(=) LMNA_00137 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 1/94 -
-/? Unknown 3i c.639+73C>T - r.(=) p.(=) LMNA_00138 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 1/94 -
-/? Unknown 5 c.861T>C - r.(?) p.(=) LMNA_00032 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 3/94 -
-/? Unknown 5i c.937-83G>T - r.(=) p.(=) LMNA_00143 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 3/94 -
-/? Unknown 6i c.1157+16G>A - r.(=) p.(=) LMNA_00050 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 3/94 -
-/? Unknown 6i c.1158-44C>T - r.(=) p.(=) LMNA_00169 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 1/94 -
-/? Unknown 7 c.1338T>C - r.(?) p.(=) LMNA_00033 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 3/94 -
-/? Unknown 8i c.1489-41C>T - r.(=) p.(=) LMNA_00079 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 3/94 -
-/? Unknown 10 c.1698C>T - r.(?) p.(=) LMNA_00027 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 19/94 -
-/? Unknown 10i c.1699-260C>T - r.(=) p.(=) LMNA_00242 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 3/94 -
-/? Unknown 10i c.1699-231T>C - r.(=) p.(=) LMNA_00241 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 3/94 -
-/? Unknown 11 c.1761G>A - r.(?) p.(=) LMNA_00207 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 1/94 -
-/? Unknown 12 c.*79G>C - r.(?) p.(=) LMNA_00103 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 2/94 -
-/? Unknown 12 c.*211delA - r.(?) p.(=) LMNA_00238 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 9/94 -
-/? Unknown 12 c.*483_*484insGA - r.(?) p.(=) LMNA_00248 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 3/94 -
-/? Unknown 12 c.*1046C>T - r.(?) p.(=) LMNA_00247 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 4/94 -

15 entries in ZMPSTE24

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Genet_ori Descending
Ascending
Segregation Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
-/? Unknown - c.-1269C>G - r.(=) p.(=) ZMPSTE24_00026 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 9/94 -
-/? Unknown - c.-1149G>A - r.(=) p.(=) ZMPSTE24_00025 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 30/94 -
-/? Unknown - c.-954G>C - r.(=) p.(=) ZMPSTE24_00035 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 1/94 -
-/? Unknown - c.-522C>G - r.(=) p.(=) ZMPSTE24_00031 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 1/94 -
-/? Unknown - c.-326G>A - r.(=) p.(=) ZMPSTE24_00028 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 9/94 -
-/? Unknown 1 c.-194A>G - r.(=) p.(=) ZMPSTE24_00027 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 1/94 -
-/? Unknown 3i c.357+114A>G - r.(=) p.(=) ZMPSTE24_00029 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 30/94 -
-/? Unknown 4i c.474+83A>C - r.(=) p.(=) ZMPSTE24_00030 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 3/94 -
-/? Unknown 5i c.627+18T>G - r.(=) p.(=) ZMPSTE24_00032 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 8/94 -
-/? Unknown 5i c.628-50T>G - r.(=) p.(=) ZMPSTE24_00033 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 3/94 -
-/? Unknown 6 c.651T>C Asp217Asp r.(?) p.(=) ZMPSTE24_00017 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 8/94 -
-/? Unknown 6i c.769+4192C>T - r.(=) p.(=) ZMPSTE24_00034 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 8/94 -
-/? Unknown 8i c.1059+61G>A - r.(=) p.(=) ZMPSTE24_00024 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 1/94 -
-/? Unknown 10 c.*723C>T - r.(?) p.(=) ZMPSTE24_00022 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 9/94 -
-/? Unknown 10 c.*890A>G - r.(?) p.(=) ZMPSTE24_00023 47 healthy elderly (>85y) germline (inherited) - Halaschek-Wiener 2009 DNA SEQ 9/94 -

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