RGD:13627207 Rat Genome Database

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Variant: RGD:13627207 -  Homo sapiens

RGD ID: 13627207
RS ID: rs1554665868
ClinVar ID: CV524624
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GBA2  
Reference Nucleotide: -
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 35,738,379
GRCh38 9 35,738,382
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.11:g.35738379_35738380insA
NG_033899.1:g.15846_15847insT
NC_000009.12:g.35738382_35738383insA
NM_001330660.2:c.2055-9_2055-8insT
More... 		09/24/2017 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View
paraplegia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GBA2
Accession:XM_017014945
Location:INTRON

Gene Symbol:GBA2
Accession:XM_017014940
Location:INTRON

Gene Symbol:GBA2
Accession:NM_001330660
Location:INTRON

Gene Symbol:GBA2
Accession:XM_047423612
Location:INTRON

Gene Symbol:GBA2
Accession:XM_017014941
Location:INTRON

Gene Symbol:GBA2
Accession:NM_020944
Location:INTRON

Gene Symbol:GBA2
Accession:XM_017014937
Location:INTRON

Gene Symbol:GBA2
Accession:XM_017014943
Location:INTRON

Gene Symbol:GBA2
Accession:XM_017014944
Location:INTRON

Gene Symbol:GBA2
Accession:XM_005251526
Location:INTRON

Gene Symbol:GBA2
Accession:XM_017014939
Location:INTRON

Gene Symbol:GBA2
Accession:XM_017014938
Location:INTRON

Gene Symbol:GBA2
Accession:XM_006716809
Location:INTRON

Gene Symbol:GBA2
Accession:XM_017014942
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000633100 CLINVAR
dbSNP (RS) rs1554665868 CLINVAR
MedGen C0037772 CLINVAR
NCBI Gene GBA2 CLINVAR
OMIM 609471 CLINVAR