Unique variants in the GBA gene

Information The variants shown are described using the NM_000157.3 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/. 1 - c.-203A>G - r.(=) p.(=) - ClinVar g.155241315T>C - dbSNP, ClinVar GBA_000010 rs188978150 1/11 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.-145G>A - r.(=) p.(=) - - g.155241257C>T - dbSNP GBA_000006 rs371157845 2/11 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.28-10C>A - r.(=) p.(=) - - g.155240727G>T - dbSNP GBA_000009 rs778920100 1/11 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.259C>T - r.(?) p.(Arg87Trp) - ClinVar g.155239934G>A - dbSNP, (OMIM 0033), ClinVar GBA_000007 rs1141814 1/11 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.437C>T - r.(?) p.(Ser146Leu) - ClinVar g.155239633G>A S146L dbSNP, ClinVar GBA_000001 rs758447515 1/11 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.476G>A - r.(?) p.(Arg159Gln) - ClinVar g.155238629C>T R159Q dbSNP, (OMIM 0004), ClinVar GBA_000002 rs79653797 1/11 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.543C>T - r.(=) p.(=) - - g.155238562G>A - dbSNP GBA_000008 rs563689350 1/11 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.605G>A - r.(?) p.(Arg202Gln) - ClinVar g.155238290C>T R202Q dbSNP, ClinVar GBA_000003 rs398123531 2/11 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.1448T>C - r.(?) p.(Leu483Pro) - ClinVar g.155235252A>G L483P dbSNP, ClinVar GBA_000004 rs421016 1/11 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.1448T>G - r.(?) p.(Leu483Arg) - ClinVar g.155235252A>C L483R dbSNP, ClinVar GBA_000005 rs421016 1/11 - Nuur Athirah Binti Mohd Daud
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