RGD:8640367 Rat Genome Database

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Variant: RGD:8640367 -  Homo sapiens

RGD ID: 8640367
RS ID: rs104886460
ClinVar ID: CV99352
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GBA1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 155,210,420
GRCh38 1 155,240,629
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_009783.1:g.9069G>A
NC_000001.11:g.155240629C>T
NC_000001.10:g.155210420C>T
NM_000157.4:c.115+1G>A
More... 		10/18/2021 intron|intron variant|splice donor variant|splice-5 pathogenic|likely pathogenic all ages|variable 1-9 / 100 000 Acid beta-glucosidase deficiency; Acute cerebral Gaucher disease; Acute neuronopathic Gaucher's disease; Autosomal dominant diffuse Lewy body disease; Cerebroside lipidosis syndrome; Diffuse Lewy body disease; Gaucher disease collodion type; Gaucher disease perinatal lethal; Gaucher disease type 1; Gaucher disease type 2; Gaucher disease type 3C; Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease, acute neuronopathic type; Gaucher disease, chronic neuronopathic type; Gaucher disease, infantile cerebral; Gaucher disease, juvenile and adult, cerebral; Gaucher disease, noncerebral juvenile; Gaucher disease, perinatal-lethal form; Gaucher disease, subacute neuronopathic type; Gaucher Disease, Type 3; GAUCHER DISEASE, TYPE IIIC; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher splenomegaly; Gaucher's disease, type 1; GBA DEFICIENCY; GD 1; GD 2; GD 3; GD I; GD II; GD III; Glucocerebrosidase deficiency; Glucocerebrosidosis; Glucosyl cerebroside lipidosis; Glucosylceramidase deficiency; Hereditary late onset Parkinson disease; Kerasin lipoidosis; Kerasin thesaurismosis; Lewy Body Disease; none provided; Parkinson disease, late-onset; PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO; Parkinson's disease; Sphingolipidosis 1; Subacute neuronopathic Gaucher's disease; Susceptibility to Parkinson's Disease
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Lewy bodies  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:GBA1
Accession:NM_001171811
Location:5UTRS;INTRON

Gene Symbol:GBA1
Accession:NM_001171812
Location:INTRON

Gene Symbol:GBA1
Accession:NM_001005741
Location:INTRON

Gene Symbol:GBA1
Accession:NM_001005742
Location:INTRON

Gene Symbol:GBA1
Accession:NM_000157
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:1415223   PMID:1558964   PMID:1589760   PMID:9153297   PMID:10079102   PMID:10649495   PMID:10796875   PMID:11783951   PMID:11933202   PMID:12204005   PMID:16199547   PMID:20729108  
PMID:20816920   PMID:21228398   PMID:21700325   PMID:22975760   PMID:23430873   PMID:25127542   PMID:25525159   PMID:25653295   PMID:25741868   PMID:26117366   PMID:26689913   PMID:27682613  
PMID:28492532   PMID:31561936  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000004546 CLINVAR
  RCV000032094 CLINVAR
  RCV000177098 CLINVAR
  RCV000762856 CLINVAR
  RCV000790724 CLINVAR
  RCV001004137 CLINVAR
  RCV001253701 CLINVAR
  RCV002460910 CLINVAR
dbSNP (RS) rs104886460 CLINVAR
MedGen C0017205 CLINVAR
  C0268250 CLINVAR
  C0752347 CLINVAR
  C0950123 CLINVAR
  C1961835 CLINVAR
  C3160718 CLINVAR
  C3661900 CLINVAR
NCBI Gene GBA CLINVAR
OMIM 127750 CLINVAR
  168600 CLINVAR
  230800 CLINVAR
  230900 CLINVAR
  231000 CLINVAR
  231005 CLINVAR
  606463 CLINVAR
  608013 CLINVAR
OMIM Allele 606463.0015 CLINVAR
SNOMED CT 12246008 CLINVAR
  49049000 CLINVAR
  62201009 CLINVAR