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.

8 entries on 1 page. Showing entries 1 - 8.
Legend   How to query  

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     
?/. - c.1226A>G r.(?) p.(Asn409Ser) Unknown - VUS g.155205634T>C g.155235843T>C - - GBA_000005 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1226A>G r.(?) p.(Asn409Ser) Unknown - VUS g.155205634T>C g.155235843T>C - - GBA_000005 - - - - Germline - - - - - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1226A>G r.(?) p.(Asn409Ser) Unknown - VUS g.155205634T>C g.155235843T>C - - GBA_000005 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1226A>G r.(?) p.(Asn409Ser) Unknown - VUS g.155205634T>C g.155235843T>C - - GBA_000005 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.1226A>G r.(?) p.(Asn409Ser) Unknown - pathogenic g.155205634T>C g.155235843T>C GBA(NM_000157.4):c.1226A>G (p.N409S), GBA(NM_001005741.2):c.1226A>G (p.N409S) - GBA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1226A>G r.(?) p.(Asn409Ser) Paternal (confirmed) - likely benign g.155205634T>C g.155235843T>C - - GBA_000005 - PubMed: Helbig 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - trio WES MRT 28195318-FamPat11/12 PubMed: Helbig 2017 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F;M no United States Ashkenazi/Yemeni Jewish - 0 - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Unknown - pathogenic g.155205634T>C g.155235843T>C GBA(NM_000157.4):c.1226A>G (p.N409S), GBA(NM_001005741.2):c.1226A>G (p.N409S) - GBA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1226A>G r.(?) p.(Asn409Ser) Unknown - pathogenic g.155205634T>C g.155235843T>C GBA(NM_000157.4):c.1226A>G (p.N409S), GBA(NM_001005741.2):c.1226A>G (p.N409S) - GBA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query