LOVD - Variant listings for POMT1

About this overview [Show]

Patient data (#0000370)
Phenotype -
Phenotype additional -
Reference JdD
Remarks -
Geographic origin -
Ethnic origin -
Gender -
Inheritance unknown
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 13
DNA change c.1299C>A   (View in UCSC Genome Browser, Ensembl)
Var_pub_as -
RNA change r.(?)
Protein change p.(Asp433Glu)
DB-ID POMT1_00037
Variant remarks -
Genet_ori germline (inherited)
Reference dbSNP-rs11243406
Template DNA
Technique SEQ
Frequency -
RE-site -

7 entries in POMGNT1

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
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
?/? Parent #1 2 c.46C>T - r.(?) p.(Arg16Trp) POMGNT1_00010 - germline (inherited) dbSNP-rs34058684 DNA SEQ 0.01 -
?/? Parent #1 4 c.244C>T - r.(?) p.(=) POMGNT1_00059 - germline (inherited) dbSNP-rs34212808 DNA SEQ 0.34 -
?/? Parent #1 8 c.681A>G - r.(?) p.(=) POMGNT1_00045 - germline (inherited) dbSNP-rs2292487 DNA SEQ 0.12-0.43 -
?/? Parent #1 16 c.1324C>T - r.1324c>u p.Arg442Cys POMGNT1_00007 - germline (inherited) dbSNP-rs28940869 DNA SEQ - -
?/? Parent #1 17 c.1478C>G - r.(?) p.(Pro493Arg) POMGNT1_00005 - germline (inherited) dbSNP-rs28942068 DNA SEQ - -
?/? Parent #1 17 c.1510G>A - r.(?) p.(Val504Ile) POMGNT1_00058 - germline (inherited) dbSNP-rs17102066 DNA SEQ 0.01 -
?/? Parent #1 21 c.1867G>A - r.(?) p.(Val623Met) POMGNT1_00038 - germline (inherited) dbSNP-rs6659553 DNA SEQ 0.00-0.31 -

24 entries in POMT1

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
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
-/? Unknown 3 c.123-5dupT - r.(=) p.(=) POMT1_00052 - germline (inherited) dbSNP-rs10122068 DNA SEQ - -
?/? Unknown 3 c.226G>A - r.(?) p.(Gly76Arg) POMT1_00002 - germline (inherited) dbSNP-rs28941782 DNA SEQ - -
-/? Unknown 5 c.281-82C>T - r.(=) p.(=) POMT1_00053 - germline (inherited) dbSNP-rs6597501 DNA SEQ - -HhI
-/? Unknown 6 c.428-21T>C - r.(=) p.(=) POMT1_00054 - germline (inherited) dbSNP-rs11243404 DNA SEQ - -NlaIII
-/? Unknown 8 c.718T>G - r.(?) p.(Cys240Gly) POMT1_00030 - germline (inherited) dbSNP-rs4997217 DNA SEQ - -
-/? Unknown 8 c.739A>G .724A>G r.(?) p.(Met247Val) POMT1_00031 - germline (inherited) dbSNP-rs4995933 DNA SEQ - -
-/? Unknown 8 c.751C>T - r.(?) p.(Arg251Trp) POMT1_00032 - germline (inherited) dbSNP-rs3887873 DNA SEQ - -
-/? Unknown 8 c.752G>A - r.(?) p.(Arg251Gln) POMT1_00033 - germline (inherited) dbSNP-rs2296949 DNA SEQ - -
-/? Unknown 9 c.766-48A>G - r.(=) p.(=) POMT1_00055 - germline (inherited) dbSNP-rs2018621 DNA SEQ - -RsaI
-/? Unknown 10 c.922-65G>A - r.(=) p.(=) POMT1_00056 - germline (inherited) dbSNP-rs34159422 DNA SEQ - -
-/? Unknown 10 c.922-49T>G - r.(=) p.(=) POMT1_00057 - germline (inherited) dbSNP-rs4740163 DNA SEQ - -
-/? Unknown 10 c.942C>T - r.(?) p.(=) POMT1_00014 - germline (inherited) dbSNP-rs10901065 DNA SEQ - -
-/? Unknown 10 c.979G>A - r.(?) p.(Val327Ile) POMT1_00035 - germline (inherited) dbSNP-rs4740164 DNA SEQ - -
-/? Unknown 10 c.1052+49G>A - r.(=) p.(=) POMT1_00058 - germline (inherited) dbSNP-rs10901066 DNA SEQ - -
-/? Unknown 11 c.1053-113C>G - r.(=) p.(=) POMT1_00076 - germline (inherited) dbSNP-rs10901068 DNA SEQ - -
-/? Unknown 11 c.1113C>T - r.(?) p.(=) POMT1_00036 - germline (inherited) dbSNP-rs3739494 DNA SEQ - -
-/? Unknown 13 c.1299C>A - r.(?) p.(Asp433Glu) POMT1_00037 - germline (inherited) dbSNP-rs11243406 DNA SEQ - -
-/? Unknown 14 c.1432-61A>G - r.(=) p.(=) POMT1_00061 - germline (inherited) dbSNP-rs1547768 DNA SEQ - -
?/? Unknown 17 c.1758G>A - r.(?) p.(=) POMT1_00039 - germline (inherited) dbSNP-rs34954751 DNA SEQ - -
-/? Unknown 17 c.1764+48C>G - r.(=) p.(=) POMT1_00008 - germline (inherited) dbSNP-rs2277152 DNA SEQ - -
-/? Unknown 17 c.1764+107C>A - r.(=) p.(=) POMT1_00009 - germline (inherited) dbSNP-rs2277153 DNA SEQ - -
?/? Unknown 19 c.1922C>T - r.(?) p.(Ala641Val) POMT1_00041 - germline (inherited) dbSNP-rs12115566 DNA SEQ - -
-/? Unknown 19 c.2069+13C>T - r.(=) p.(=) POMT1_00010 - germline (inherited) dbSNP-rs4740165 DNA SEQ - -
-/? Unknown 20 c.*41T>C - r.(?) p.(=) POMT1_00015 - germline (inherited) dbSNP-rs3739495 DNA SEQ - -

10 entries in POMT2

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
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
-/? Parent #1 1 c.161C>A - r.(?) p.(Ala54Glu) POMT2_00006 - germline (inherited) dbSNP-rs8177536 DNA SEQ 0.01 -
-/? Parent #1 1 c.162G>T - r.(?) p.(=) POMT2_00007 - germline (inherited) dbSNP-rs2270420 DNA SEQ 0.10 -
-/? Parent #1 9i c.1116+35A>G - r.(=) p.(=) POMT2_00017 - germline (inherited) dbSNP-rs2302831 DNA SEQ - -
-/? Parent #1 13 c.1383A>G - r.(?) p.(=) POMT2_00008 - germline (inherited) dbSNP-rs2270419 DNA SEQ 0.08 -
-/? Parent #1 19 c.1911G>T - r.(?) p.(=) POMT2_00009 - germline (inherited) dbSNP-rs3209079 DNA SEQ - -
-/? Parent #1 19 c.1911G>T - r.(?) p.(=) POMT2_00009 - germline (inherited) dbSNP-rs3209079 DNA SEQ - -
-/? Parent #1 19 c.1911G>T - r.(?) p.(=) POMT2_00009 - germline (inherited) dbSNP-rs3209079 DNA SEQ - -
-/? Parent #1 19 c.1911G>T - r.(?) p.(=) POMT2_00009 - germline (inherited) dbSNP-rs3209079 DNA SEQ - -
-/? Parent #1 21 c.*75C>T - r.(?) p.(=) POMT2_00010 - germline (inherited) dbSNP-rs1055592 DNA SEQ 0.29 -
-/? Parent #1 21 c.*587G>A - r.(?) p.(=) POMT2_00011 - germline (inherited) dbSNP-rs10141995 DNA SEQ 0.21 -

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