All variants in the ASTE1 gene

Information The variants shown are described using the NM_014065.2 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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.95G>T r.(?) p.(Gly32Val) - VUS g.130744056C>A - - - ASTE1_000010 - PubMed: Roosing 2014, Journal: Roosing 2014 - - Germline no - - - - Johan den Dunnen
+?/. - c.796T>G r.(?) p.(Phe266Val) - VUS g.130743355A>C - - - ASTE1_000011 - PubMed: Roosing 2014, Journal: Roosing 2014 - - Germline no - - - - Johan den Dunnen
+/. - c.*12838C>A r.(=) p.(=) - pathogenic g.130720063G>T g.131001219G>T ATP2C1(NM_001199179.3):c.2630-1G>T - ASTE1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*14450A>C r.(=) p.(=) - VUS g.130718451T>G g.130999607T>G ATP2C1(NM_001001485.2):c.2577T>G (p.(Ile859Met)) - ASTE1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.*14527dup r.(?) p.(=) - pathogenic g.130718376dup - ATP2C1(NM_014382.5):c.2502dupT (p.E835*) - ATP2C1_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.*15670G>A r.(=) p.(=) - likely pathogenic g.130717231C>T - - - ASTE1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*15687G>A r.(=) p.(=) - VUS g.130717214C>T - ATP2C1(NM_014382.5):c.2468C>T (p.A823V) - ASTE1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*15716T>C r.(=) p.(=) - likely benign g.130717185A>G g.130998341A>G ATP2C1(NM_001199179.3):c.2439A>G (p.T813=) - ATP2C1_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.*15739G>A r.(=) p.(=) - pathogenic g.130717162C>T - ATP2C1(NM_014382.5):c.2416C>T (p.R806*) - ATP2C1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.*16303C>A r.(=) p.(=) - likely pathogenic g.130716598G>T - - - ASTE1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*16322_*16325del r.(=) p.(=) - pathogenic g.130716581_130716584del g.130997737_130997740del ATP2C1(NM_001199179.3):c.2375_2378delTTGT (p.F792Sfs*10) - ATP2C1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.*16322_*16325del r.(=) p.(=) - pathogenic g.130716581_130716584del - ATP2C1(NM_001199179.3):c.2375_2378delTTGT (p.F792Sfs*10) - ATP2C1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*16378del r.(?) p.(=) - pathogenic g.130716527del g.130997683del ATP2C1(NM_001199179.3):c.2321delA (p.N774Tfs*2) - ASTE1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.*17312G>T r.(=) p.(=) - pathogenic g.130715589C>A - - - ATP2C1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*17312_*17317del r.(=) p.(=) - pathogenic g.130715586_130715591del g.130996742_130996747del ATP2C1(NM_001199179.3):c.2189_2194delATGCCA (p.N730_A731del) - ATP2C1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.*17945C>T r.(=) p.(=) - pathogenic g.130714956G>A - ATP2C1(NM_001199179.1):c.2126+1G>A - ATP2C1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.*17946G>A r.(=) p.(=) - pathogenic g.130714955C>T - - - ATP2C1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*17967A>G r.(=) p.(=) - VUS g.130714934T>C - ATP2C1(NM_014382.5):c.2105T>C (p.F702S) - ASTE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.*20119G>A r.(=) p.(=) - pathogenic g.130712782C>T - - - ATP2C1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*21061T>A r.(=) p.(=) - VUS g.130711840A>T - - - ASTE1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*21062_*21064del r.(=) p.(=) - VUS g.130711841_130711843del g.130992997_130992999del ATP2C1(NM_001199179.3):c.1886_1888delTTA (p.I629del) - ASTE1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*21118C>T r.(=) p.(=) - likely benign g.130711783G>A g.130992939G>A ATP2C1(NM_001199179.3):c.1840-12G>A - ATP2C1_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.*33386del r.(?) p.(=) - pathogenic g.130699515del - - - ATP2C1_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*33451T>C r.(=) p.(=) - VUS g.130699450A>G g.130980606A>G ATP2C1(NM_001199179.3):c.1766A>G (p.K589R) - ASTE1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.*34637C>G r.(=) p.(=) - pathogenic g.130698264G>C g.130979420G>C ATP2C1(NM_001199179.3):c.1741+1G>C - ASTE1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.*34641T>C r.(=) p.(=) - pathogenic g.130698260A>G - ATP2C1(NM_001199179.3):c.1738A>G (p.I580V) - ATP2C1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.*34670G>A r.(=) p.(=) - pathogenic g.130698231C>T - - - ATP2C1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*46817C>G r.(=) p.(=) - pathogenic g.130686084G>C - ATP2C1(NM_014382.5):c.1218G>C (p.E406D) - ATP2C1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*49086C>G r.(=) p.(=) - VUS g.130683815G>C g.130964971G>C ATP2C1(NM_001199179.1):c.1048G>C (p.D350H), ATP2C1(NM_014382.5):c.1048G>C (p.D350H) - ASTE1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.*49086C>G r.(=) p.(=) - likely pathogenic g.130683815G>C - ATP2C1(NM_001199179.1):c.1048G>C (p.D350H), ATP2C1(NM_014382.5):c.1048G>C (p.D350H) - ASTE1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.*49086C>G r.(=) p.(=) - likely pathogenic g.130683815G>C - ATP2C1(NM_001199179.1):c.1048G>C (p.D350H), ATP2C1(NM_014382.5):c.1048G>C (p.D350H) - ASTE1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*50016T>A r.(=) p.(=) - pathogenic g.130682885A>T - - - ASTE1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.*50051A>G r.(=) p.(=) - likely pathogenic g.130682850T>C - - - ATP2C1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*50060C>A r.(=) p.(=) - pathogenic g.130682841G>T g.130963997G>T ATP2C1(NM_001199179.3):c.926G>T (p.G309V) - ATP2C1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.*50060C>A r.(=) p.(=) - likely pathogenic g.130682841G>T - ATP2C1(NM_001199179.3):c.926G>T (p.G309V) - ATP2C1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*50066G>A r.(=) p.(=) - pathogenic g.130682835C>T - - - ATP2C1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*57908G>A r.(=) p.(=) - pathogenic g.130674993C>T - - - ASTE1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*58979C>A r.(=) p.(=) - pathogenic g.130673922G>T g.130955078G>T ATP2C1(NM_001199179.1):c.754G>T (p.E252*), ATP2C1(NM_014382.5):c.754G>T (p.E252*) - ASTE1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.*58979C>A r.(=) p.(=) - pathogenic g.130673922G>T - ATP2C1(NM_001199179.1):c.754G>T (p.E252*), ATP2C1(NM_014382.5):c.754G>T (p.E252*) - ASTE1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.*59044C>T r.(=) p.(=) - likely pathogenic g.130673857G>A - ATP2C1(NM_014382.5):c.689G>A (p.G230D) - ATP2C1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*60183A>G r.(=) p.(=) - likely benign g.130672718T>C g.130953874T>C ATP2C1(NM_001199179.3):c.585T>C (p.C195=) - ATP2C1_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.*72370dup r.(?) p.(=) - pathogenic g.130660531dup - ATP2C1(NM_014382.5):c.519dupA (p.R174Tfs*4) - ATP2C1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*73363T>C r.(=) p.(=) - VUS g.130659538A>G - ATP2C1(NM_014382.5):c.422+3A>G - ASTE1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*79329T>C r.(=) p.(=) - benign g.130653572A>G g.130934728A>G ATP2C1(NM_001199179.3):c.324+17A>G - ATP2C1_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*79346C>G r.(=) p.(=) - VUS g.130653555G>C - - - ASTE1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*81990G>A r.(=) p.(=) - pathogenic g.130650911C>T - - - ATP2C1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*83524C>T r.(=) p.(=) - likely benign g.130649377G>A g.130930533G>A ATP2C1(NM_001199179.3):c.117+7G>A - ATP2C1_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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