RGD:8558011 Rat Genome Database

Variant: RGD:8558011 - Homo sapiens

RGD ID:

8558011

RS ID:

rs364897

ClinVar ID:

CV19353

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

GBA1 LOC106627981

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	155,208,006
GRCh38	1	155,238,215

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NG_009783.1:g.11483A>G NC_000001.11:g.155238215T>C NC_000001.10:g.155208006T>C NM_000157.2:c.680A>G More...	11/29/2021	missense variant	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	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

Gaucher's disease (IAGP)

Gaucher's disease type I (IAGP)

Gaucher's disease type III (IAGP)

Lewy body dementia (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Lewy bodies (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	GBA1
Accession:	NM_001171811
Location:	EXON
Amino Acid Prediction:	N to S (nonsynonymous)
Amino Acid Position:	140

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDF SIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTSGAVNGKGSLKGQPGDIYHQT WARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLL PHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSII TNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVA LMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ*

Gene Symbol:	GBA1
Accession:	NM_001005742
Location:	EXON
Amino Acid Prediction:	N to S (nonsynonymous)
Amino Acid Position:	227

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYE STRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRV PMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTSGAVNGKGSLKGQP GDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLML DDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGM QYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQK NDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ*

Gene Symbol:	GBA1
Accession:	NM_000157
Location:	EXON
Amino Acid Prediction:	N to S (nonsynonymous)
Amino Acid Position:	227

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYE STRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRV PMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTSGAVNGKGSLKGQP GDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLML DDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGM QYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQK NDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ*

Gene Symbol:	GBA1
Accession:	NM_001171812
Location:	EXON
Amino Acid Prediction:	N to S (nonsynonymous)
Amino Acid Position:	178

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYE STRSGRRMELSMGPIQANHTGTGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQR PVSLLASPWTSPTWLKTSGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLG FTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRL FPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDT FYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIH TYLWRRQ*

Gene Symbol:	GBA1
Accession:	NM_001005741
Location:	EXON
Amino Acid Prediction:	N to S (nonsynonymous)
Amino Acid Position:	227

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYE STRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRV PMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTSGAVNGKGSLKGQP GDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLML DDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGM QYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQK NDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:8829654	PMID:12595585	PMID:15146461	PMID:16086325	PMID:17395504	PMID:17427031	PMID:20004867	PMID:20729108	PMID:21056933	PMID:22387070	PMID:24022302	PMID:25741868
PMID:26709268	PMID:26743617	PMID:27865684	PMID:27872820	PMID:28492532	PMID:30382391	PMID:30497978

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000004557	CLINVAR
	RCV000004558	CLINVAR
	RCV000020156	CLINVAR
	RCV000723402	CLINVAR
	RCV001004131	CLINVAR
	RCV002504742	CLINVAR
dbSNP (RS)	rs364897	CLINVAR
MedGen	C0017205	CLINVAR
	C0268251	CLINVAR
	C0752347	CLINVAR
	C1961835	CLINVAR
	C3661900	CLINVAR
NCBI Gene	106627981	CLINVAR
	GBA	CLINVAR
OMIM	127750	CLINVAR
	168600	CLINVAR
	230800	CLINVAR
	230900	CLINVAR
	231000	CLINVAR
	231005	CLINVAR
	606463	CLINVAR
	608013	CLINVAR
OMIM Allele	606463.0026	CLINVAR
SNOMED CT	5963005	CLINVAR
	62201009	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:8558011 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:8558011 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar