All variants in the GBA gene

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

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
./. 2i c.115+1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.155210420C>T Farrer MJ1, Williams LN, Algom AA, Kachergus J, Hulihan MM, Ross OA, Rajput A, Papapetropoulos S, Mash DC, Dickson DW.(2009) GBA_000003 - Y Yang
./. 7 c.882T>A r.(?) p.(His294Gln) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.155207249A>T Farrer MJ1, Williams LN, Algom AA, Kachergus J, Hulihan MM, Ross OA, Rajput A, Papapetropoulos S, Mash DC, Dickson DW.(2009) GBA_000004 - Y Yang
./. 9 c.1226A>G r.(?) p.(Asn409Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.155205634T>C Mata IF1, Samii A, Schneer SH, Roberts JW, Griffith A, Leis BC, Schellenberg GD, Sidransky E, Bird TD, Leverenz JB, Tsuang D, Zabetian CP.(2008) GBA_000002 - Y Yang
./. 9 c.1263_1317del55 r.(?) p.(Leu422Profs*4) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.155205543_155205597del55 Farrer MJ1, Williams LN, Algom AA, Kachergus J, Hulihan MM, Ross OA, Rajput A, Papapetropoulos S, Mash DC, Dickson DW.(2009) GBA_000005 - Y Yang
./. 10 c.1448T>C r.(?) p.(Leu483Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution g.155205043A>G Mata IF1, Samii A, Schneer SH, Roberts JW, Griffith A, Leis BC, Schellenberg GD, Sidransky E, Bird TD, Leverenz JB, Tsuang D, Zabetian CP.(2008) GBA_000001 - Y Yang
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