RGD:13532465 Rat Genome Database

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Variant: RGD:13532465 -  Homo sapiens

RGD ID: 13532465
RS ID: rs1557198821
ClinVar ID: CV512625
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GDI1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,669,543
GRCh38 X 154,441,196
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001493.2:c.819+1G>A
NC_000023.10:g.153669543G>A
NG_008954.2:g.9044G>A
NG_008954.1:g.9285G>A
More... 		04/11/2017 splice donor variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GDI1
Accession:NM_001493
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000624228 CLINVAR
dbSNP (RS) rs1557198821 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene GDI1 CLINVAR
OMIM 300104 CLINVAR