RGD:21404089 Rat Genome Database

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Variant: RGD:21404089 -  Homo sapiens

RGD ID: 21404089
RS ID: rs1264734195
ClinVar ID: CV801584
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GBA1  LOC106627981  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 155,207,185
GRCh38 1 155,237,394
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001165282.1:p.Arg229Cys
NP_001005741.1:p.Arg316Cys
NM_001171811.2:c.685C>T
NM_001171812.2:c.799C>T
More... 		09/13/2019 missense variant likely pathogenic|uncertain significance Acid beta-glucosidase deficiency; Acute neuronopathic Gaucher's disease; AllHighlyPenetrant; Gaucher disease type 1; Gaucher disease type 2; Gaucher disease type 3C; 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, subacute neuronopathic type; Gaucher Disease, Type 3; GAUCHER DISEASE, TYPE IIIC; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher's disease, type 1; GBA DEFICIENCY; GD 1; GD 2; GD 3; GD I; GD II; GD III; Glucocerebrosidase deficiency; Hereditary late onset Parkinson disease; none provided; PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO; Parkinson's disease; Subacute neuronopathic Gaucher's disease; Susceptibility to Parkinson's Disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GBA1
Accession:NM_000157
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 316
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYE
STRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRV
PMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQP
GDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVCLLML
DDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGM
QYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQK
NDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ*

Gene Symbol:GBA1
Accession:NM_001171812
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 267
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYE
STRSGRRMELSMGPIQANHTGTGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQR
PVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLG
FTPEHQRDFIARDLGPTLANSTHHNVCLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRL
FPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDT
FYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIH
TYLWRRQ*

Gene Symbol:GBA1
Accession:NM_001171811
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDF
SIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQT
WARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVCLLMLDDQRLLL
PHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSII
TNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVA
LMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ*

Gene Symbol:GBA1
Accession:NM_001005742
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 316
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYE
STRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRV
PMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQP
GDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVCLLML
DDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGM
QYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQK
NDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ*

Gene Symbol:GBA1
Accession:NM_001005741
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 316
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYE
STRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRV
PMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQP
GDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVCLLML
DDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGM
QYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQK
NDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ*
Variant Samples
Additional References at PubMed
PMID:22375149   PMID:22387070   PMID:22964618   PMID:25653295   PMID:25741868   PMID:33176831  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001004122 CLINVAR
  RCV001759683 CLINVAR
  RCV001805970 CLINVAR
  RCV001836930 CLINVAR
dbSNP (RS) rs1264734195 CLINVAR
MedGen C1961835 CLINVAR
  C3160718 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene 106627981 CLINVAR
  GBA CLINVAR
OMIM 168600 CLINVAR
  230800 CLINVAR
  230900 CLINVAR
  231000 CLINVAR
  231005 CLINVAR
  606463 CLINVAR
SNOMED CT 49049000 CLINVAR
  62201009 CLINVAR