Full data view for gene GBA

A Parkinson's disease Mutation Database
Information The variants shown are described using the NM_000157.3 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 9i_9 c.1389_1497delins[NR_002188.2:n.1271_1379del] r.[1448u>c;1483g>c;1497g>c] p.[Leu483Pro;Ala495Pro] Parent #1 - pathogenic (recessive) g.155204994_155205203delins155184367_155184576 - recNciI (6463T>C;6468G>C;6482G>C) - GBA_000104 variant 2nd chromosome not found PubMed: Eyal 1990 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GD GM4394 PubMed: Eyal 1990, PubMed: Hong 1990 - - - Israel - - - - - 1 Johan den Dunnen
+/. - c.1389_1497delins[NR_002188.2:n.1271_1379del] r.[(1448u>c;1483g>c;1497g>c)] p.[(Leu483Pro;Ala495Pro)] Parent #2 - pathogenic (recessive) g.155204994_155205203delins155184367_155184576 - (RecNciI) - GBA_000104 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat2 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1389_1497delins[NR_002188.2:n.1271_1379del] r.[(1448u>c;1483g>c;1497g>c)] p.[(Leu483Pro;Ala495Pro)] Parent #1 - pathogenic (recessive) g.155204994_155205203delins155184367_155184576 - RecNciI - GBA_000104 no variant 2nd chromosome PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA22 PubMed: Pomponio 2005 - - - Argentina Poland - - - - 1 Johan den Dunnen
+/. - c.1389_1497delins[NR_002188.2:n.1271_1379del] r.[(1448u>c;1483g>c;1497g>c)] p.[(Leu483Pro;Ala495Pro)] Parent #1 - pathogenic (recessive) g.155204994_155205203delins155184367_155184577 - RecNciI - GBA_000104 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA50 PubMed: Pomponio 2005 - - - Argentina - - - - - 1 Johan den Dunnen
+/. - c.1389_1497delins[NR_002188.2:n.1271_1379del] r.[(1448u>c;1483g>c;1497g>c)] p.[(Leu483Pro;Ala495Pro)] Parent #2 - pathogenic (recessive) g.155204994_155205203delins155184367_155184578 - RecNciI - GBA_000104 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatAl PubMed: Pomponio 2005 - - - Argentina Paraguay;Spain - - - - 1 Johan den Dunnen
+/. - c.1389_1497delins[NR_002188.2:n.1271_1379del] r.[(1448u>c;1483g>c;1497g>c)] p.[(Leu483Pro;Ala495Pro)] Parent #2 - pathogenic (recessive) g.155204994_155205203delins155184367_155184579 - RecNciI - GBA_000104 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA11 PubMed: Pomponio 2005 family, 3 affected sibs - - Argentina - - - - - 3 Johan den Dunnen
+/. - c.1389_1497delins[NR_002188.2:n.1271_1379del] r.[(1448u>c;1483g>c;1497g>c)] p.[(Leu483Pro;Ala495Pro)] Parent #2 - pathogenic (recessive) g.155204994_155205203delins155184367_155184580 - RecNciI - GBA_000104 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA15 PubMed: Pomponio 2005 - - - Argentina;Paraguay - - - - - 1 Johan den Dunnen
+/. - c.1389_1497delins[NR_002188.2:n.1271_1379del] r.[(1448u>c;1483g>c;1497g>c)] p.[(Leu483Pro;Ala495Pro)] Parent #2 - pathogenic (recessive) g.155204994_155205203delins155184367_155184581 - RecNciI - GBA_000104 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatAl6 PubMed: Pomponio 2005 - - - Argentina - - - - - 1 Johan den Dunnen
+/. - c.1389_1497delins[NR_002188.2:n.1271_1379del] r.[(1448u>c;1483g>c;1497g>c)] p.[(Leu483Pro;Ala495Pro)] Parent #2 - pathogenic (recessive) g.155204994_155205203delins155184367_155184582 - RecNciI - GBA_000104 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA17 PubMed: Pomponio 2005 - - - Argentina - - - - - 1 Johan den Dunnen
+/. - c.1389_1497delins[NR_002188.2:n.1271_1379del] r.[(1448u>c;1483g>c;1497g>c)] p.[(Leu483Pro;Ala495Pro)] Parent #2 - pathogenic (recessive) g.155204994_155205203delins155184367_155184583 - RecNciI - GBA_000104 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA28 PubMed: Pomponio 2005 - - - Argentina - - - - - 1 Johan den Dunnen
+/. - c.1389_1497delins[NR_002188.2:n.1271_1379del] r.[(1448u>c;1483g>c;1497g>c)] p.[(Leu483Pro;Ala495Pro)] Parent #2 - pathogenic (recessive) g.155204994_155205203delins155184367_155184584 - RecNciI - GBA_000104 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA47 PubMed: Pomponio 2005 family, 2 affected sibs - - Argentina - - - - - 2 Johan den Dunnen
+/. - c.1389_1497delins[NR_002188.2:n.1271_1379del] r.[(1448u>c;1483g>c;1497g>c)] p.[(Leu483Pro;Ala495Pro)] Parent #2 - pathogenic (recessive) g.155204994_155205203delins155184367_155184585 - RecNciI - GBA_000104 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA48 PubMed: Pomponio 2005 - - - Argentina jew-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.1389_1497delins[NR_002188.2:n.1271_1379del] r.[(1448u>c;1483g>c;1497g>c)] p.[(Leu483Pro;Ala495Pro)] Parent #2 - pathogenic (recessive) g.155204994_155205203delins155184367_155184586 - RecNciI - GBA_000104 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA55 PubMed: Pomponio 2005 - - - Argentina - - - - - 1 Johan den Dunnen
+/. - c.1389_1497delins[NR_002188.2:n.1271_1379del] r.[(1448u>c;1483g>c;1497g>c)] p.[(Leu483Pro;Ala495Pro)] Parent #2 - pathogenic (recessive) g.155204994_155205203delins155184367_155184587 - RecNciI - GBA_000104 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA57 PubMed: Pomponio 2005 - - - Argentina Spain - - - - 1 Johan den Dunnen
+/. - c.1389_1497delins[NR_002188.2:n.1271_1379del] r.[(1448u>c;1483g>c;1497g>c)] p.[(Leu483Pro;Ala495Pro)] Parent #2 - pathogenic (recessive) g.155204994_155205203delins155184367_155184588 - RecNciI - GBA_000104 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA59 PubMed: Pomponio 2005 - - - Argentina Spain - - - - 1 Johan den Dunnen
+/. - c.1389_1497delins[NR_002188.2:n.1271_1379del] r.[(1448u>c;1483g>c;1497g>c)] p.[(Leu483Pro;Ala495Pro)] Parent #2 - pathogenic (recessive) g.155204994_155205203delins155184367_155184579 - RecNciI - GBA_000104 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA12 PubMed: Pomponio 2005 sib - - Argentina - - - - - 1 Johan den Dunnen
+/. - c.1389_1497delins[NR_002188.2:n.1271_1379del] r.[(1448u>c;1483g>c;1497g>c)] p.[(Leu483Pro;Ala495Pro)] Parent #2 - pathogenic (recessive) g.155204994_155205203delins155184367_155184579 - RecNciI - GBA_000104 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA61 PubMed: Pomponio 2005 sib - - Argentina - - - - - 1 Johan den Dunnen
+/. - c.1389_1497delins[NR_002188.2:n.1271_1379del] r.[(1448u>c;1483g>c;1497g>c)] p.[(Leu483Pro;Ala495Pro)] Parent #2 - pathogenic (recessive) g.155204994_155205203delins155184367_155184584 - RecNciI - GBA_000104 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA44 PubMed: Pomponio 2005 sib - - Argentina - - - - - 1 Johan den Dunnen
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