Unique 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     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
./. 1 2i c.115+1G>A r.spl? p.? VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.155210420C>T 1 more item GBA_000003 - Y Yang
./. 1 7 c.882T>A r.(?) p.(His294Gln) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution g.155207249A>T 1 more item GBA_000004 - Y Yang
./. 1 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 1 more item GBA_000002 - Y Yang
./. 1 9 c.1263_1317del55 r.(?) p.(Leu422Profs*4) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.155205543_155205597del55 1 more item GBA_000005 - Y Yang
./. 1 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 1 more item GBA_000001 - Y Yang
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