LOVD - Variant listings for ZMPSTE24

About this overview [Show]

Patient data (#0014008)
Phenotype -
Phenotype additional -
Reference JdD
Remarks -
Geographic origin -
Ethnic origin -
Gender -
Inheritance -
Consanguinity -
Fam_Pat -
# reported 1
CK level -
Protein data -
Submitter Johan den Dunnen

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity Unknown
Exon 3i
DNA change c.357+114A>G   (View in UCSC Genome Browser, Ensembl)
Var_pub_as -
RNA change r.(=)
Protein change p.(=)
DB-ID ZMPSTE24_00029
Variant remarks -
Genet_ori germline (inherited)
Segregation -
Reference dbSNP-rs7516571
Template DNA
Technique SEQ
Frequency -
RE-site -

54 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 - germline (inherited) - dbSNP-rs7548758 DNA SEQ - -
-/? Unknown - c.-1149G>A - r.(=) p.(=) ZMPSTE24_00025 - germline (inherited) - dbSNP-rs926830 DNA SEQ - -
-/? Unknown - c.-522C>G - r.(=) p.(=) ZMPSTE24_00031 - germline (inherited) - dbSNP-rs11811211 DNA SEQ - -
-/? Unknown - c.-326G>A - r.(=) p.(=) ZMPSTE24_00028 - germline (inherited) - dbSNP-rs3765483 DNA SEQ - -
-/? Unknown 1 c.-954G>C - r.(=) p.(=) ZMPSTE24_00035 - germline (inherited) - dbSNP-rs147867849 DNA SEQ - -
-/? Unknown 1 c.-370G>T - r.(=) p.(=) ZMPSTE24_00050 - germline (inherited) - dbSNP-rs312262683 DNA SEQ - -
-/? Unknown 1 c.-194A>G - r.(=) p.(=) ZMPSTE24_00027 - germline (inherited) - dbSNP-rs187549487 DNA SEQ - -
-/? Unknown 1 c.50delA - r.(?) p.(Lys17Serfs*21) ZMPSTE24_00021 - germline (inherited) - dbSNP-rs281875360 DNA SEQ - -
-/? Unknown 1 c.54dupT - r.(?) p.(Ile19Tyrfs*28) ZMPSTE24_00007 - germline (inherited) - dbSNP-rs281875361 DNA SEQ - -
-/? Unknown 1 c.121C>T - r.(?) p.(Glu41*) ZMPSTE24_00015 - germline (inherited) - dbSNP-rs121908094 DNA SEQ - -
-/? Unknown 1i c.124-2A>C - r.spl p.? ZMPSTE24_00010 - germline (inherited) - dbSNP-rs312262684 DNA SEQ - -
-/? Unknown 2 c.207_208del - r.(?) p.(Tyr70Serfs*4) ZMPSTE24_00052 - germline (inherited) - dbSNP-rs281875362 DNA SEQ - -
-/? Unknown 2 c.209_210del - r.(?) p.(Tyr70Serfs*4) ZMPSTE24_00038 - germline (inherited) - dbSNP-rs281875363 DNA SEQ - -
-/? Unknown 3 c.281T>C - r.(?) p.(Leu94Pro) ZMPSTE24_00054 - germline (inherited) - dbSNP-rs281875364 DNA SEQ - -
-/? Unknown 3 c.296delC - r.(?) p.(Pro99Leufs*38) ZMPSTE24_00005 - germline (inherited) - dbSNP-rs281875365 DNA SEQ - -
-/? Unknown 3i c.357+114A>G - r.(=) p.(=) ZMPSTE24_00029 - germline (inherited) - dbSNP-rs7516571 DNA SEQ - -
-/? Unknown 4 c.401delG - r.(?) p.(Ser134Metfs*3) ZMPSTE24_00009 - germline (inherited) - dbSNP-rs281875366 DNA SEQ - -
-/? Unknown 4i c.475-2A>G - r.spl p.? ZMPSTE24_00043 - germline (inherited) - dbSNP-rs312262685 DNA SEQ - -
-/? Unknown 5i c.474+83A>C - r.(=) p.(=) ZMPSTE24_00030 - germline (inherited) - dbSNP-rs75470795 DNA SEQ - -
-/? Unknown 5 c.591dupT - r.(?) p.Ile198Tyrfs*20 ZMPSTE24_00006 - germline (inherited) - dbSNP-rs281875367 DNA SEQ - -
-/? Unknown 5 c.592_593del - r.(?) p.(Ile198Leufs*19) ZMPSTE24_00020 - germline (inherited) - dbSNP-rs281875368 DNA SEQ - -
-/? Unknown 5i c.627+1G>C - r.spl p.? ZMPSTE24_00016 - germline (inherited) - dbSNP-rs312262686 DNA SEQ - -
-/? Unknown 5i c.627+18T>G - r.(=) p.(=) ZMPSTE24_00032 - germline (inherited) - dbSNP-rs16827109 DNA SEQ - -
-/? Unknown 5i c.628-50T>G - r.(=) p.(=) ZMPSTE24_00033 - germline (inherited) - dbSNP-rs6677717 DNA SEQ - -
-/? Unknown 5i c.628-2A>G - r.spl p.? ZMPSTE24_00041 - germline (inherited) - dbSNP-rs312262687 DNA SEQ - -
-/? Unknown 6i c.628-50T>C - r.(=) p.(=) ZMPSTE24_00051 - germline (inherited) - dbSNP-rs6677717 DNA SEQ - -
-/? Unknown 6 c.651T>C - r.(?) p.(=) ZMPSTE24_00017 - germline (inherited) - dbSNP-rs2076697 DNA SEQ 0.06-0.26 -
?/? Unknown 6 c.651T>C 615T>C (D217D) r.(?) p.(=) ZMPSTE24_00017 - germline (inherited) - dbSNP-rs2076697 DNA SEQ - -
-/? Unknown 6 c.691G>T - r.(?) p.(Glu231*) ZMPSTE24_00014 - germline (inherited) - dbSNP-rs281875369 DNA SEQ - -
-/? Unknown 6 c.709G>T - r.(?) p.(Glu237*) ZMPSTE24_00011 - germline (inherited) - dbSNP-rs281875370 DNA SEQ - -
-/? Unknown 6 c.715G>T - r.(?) p.(Glu239*) ZMPSTE24_00049 - germline (inherited) - dbSNP-rs267607181 DNA SEQ - -
-/? Unknown 6 c.743C>T - r.(?) p.(Pro248Leu) ZMPSTE24_00012 - germline (inherited) - dbSNP-rs121908095 DNA SEQ - -
-/? Unknown 6i c.769+4192C>T - r.(=) p.(=) ZMPSTE24_00034 - germline (inherited) - dbSNP-rs6676644 DNA SEQ - -
-/? Unknown 6i c.770-131T>C - r.(=) p.(=) ZMPSTE24_00045 - germiline (ihnerited) - dbSNP-rs78985808 DNA SEQ - -
-/? Unknown 7 c.794A>G - r.(?) p.(Asn265Ser) ZMPSTE24_00018 - germline (inherited) - dbSNP-rs281875371 DNA SEQ - -
-/? Unknown 7 c.826C>T - r.(?) p.(Arg276*) ZMPSTE24_00039 - germline (inherited) - dbSNP-rs138606746 DNA SEQ - -
-/? Unknown 7i c.954+2T>A - r.spl p.? ZMPSTE24_00044 - germline (inherited) - dbSNP-rs312262688 DNA SEQ - -
-/? Unknown 8 c.990C>T - r.(?) p.(=) ZMPSTE24_00046 - germiline (ihnerited) - dbSNP-rs116284141 DNA SEQ - -
-/? Unknown 8 c.1018T>C - r.(?) p.(Trp340Arg) ZMPSTE24_00002 - germline (inherited) - dbSNP-rs121908093 DNA SEQ - -
-/? Unknown 8 c.1020G>A - r.(?) p.(Trp340*) ZMPSTE24_00053 - germline (inherited) - dbSNP-rs281875372 DNA SEQ - -
-/? Unknown 8 c.1035A>G - r.(?) p.(=) ZMPSTE24_00047 - germiline (ihnerited) - dbSNP-rs116496835 DNA SEQ - -
-/? Unknown 9i c.1059+61G>A - r.(=) p.(=) ZMPSTE24_00024 - germline (inherited) - dbSNP-rs188058932 DNA SEQ - -
-/? Unknown 9 c.1085dupT - r.(?) p.(Leu362Phefs*19) ZMPSTE24_00001 - germline (inherited) - dbSNP-rs137854889 DNA SEQ - -
-/? Unknown 9 c.1105C>T - r.(?) p.(Arg369*) ZMPSTE24_00040 - germline (inherited) - dbSNP-rs281875373 DNA SEQ - -
-/? Unknown 10i c.1204-5_1210del - r.spl p.? ZMPSTE24_00008 - germline (inherited) - dbSNP-rs312262689 DNA SEQ - -
-/? Unknown 10i c.1204-1G>A - r.spl p.? ZMPSTE24_00042 - germline (inherited) - dbSNP-rs61751009 DNA SEQ - -
-/? Unknown 10 c.1249C>T - r.(?) p.Gln417* ZMPSTE24_00004 - germline (inherited) - dbSNP-rs281875374 DNA SEQ - -
-/? Unknown 10 c.1263dupT - r.(?) p.(Ala422Cysfs*8) ZMPSTE24_00037 - germline (inherited) - dbSNP-rs281875375 DNA SEQ - -
-/? Unknown 10 c.1312C>T - r.(?) p.(Leu438Phe) ZMPSTE24_00055 - germline (inherited) - dbSNP-rs116771294 DNA SEQ - -
-/? Unknown 10 c.1349G>A - r.(?) p.(Trp450*) ZMPSTE24_00013 - germline (inherited) - dbSNP-rs281875376 DNA SEQ - -
-/? Unknown 10 c.1356C>G - r.(?) p.(Phe452Leu) ZMPSTE24_00048 - germline (inherited) - dbSNP-rs281875377 DNA SEQ - -
-/? Unknown 10 c.1385T>G - r.(?) p.(Leu462Arg) ZMPSTE24_00019 - germline (inherited) - dbSNP-rs281875378 DNA SEQ - -
-/? Unknown 10 c.*723C>T - r.(?) p.(=) ZMPSTE24_00022 - germline (inherited) - dbSNP-rs10489431 DNA SEQ - -
-/? Unknown 10 c.*890A>G - r.(?) p.(=) ZMPSTE24_00023 - germline (inherited) - dbSNP-rs10489432 DNA SEQ - -

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