RGD:10054547 Rat Genome Database

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Variant: RGD:10054547 -  Homo sapiens

RGD ID: 10054547
RS ID: rs876657407
ClinVar ID: CV199862
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IBA57  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 228,362,729
GRCh38 1 228,175,028
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_042231.1:g.14221A>G
NC_000001.11:g.228175028A>G
NC_000001.10:g.228362729A>G
NM_001010867.2:c.678A>G
More... 		07/07/2015 synonymous variant pathogenic Spastic paraplegia 74, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IBA57
Accession:NM_001010867
Location:EXON

Gene Symbol:IBA57
Accession:NM_001310327
Location:EXON

Variant Samples
Additional References at PubMed
PMID:25609768  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000185609 CLINVAR
dbSNP (RS) rs876657407 CLINVAR
MedGen C5568837 CLINVAR
NCBI Gene IBA57 CLINVAR
OMIM 615316 CLINVAR
  616451 CLINVAR
OMIM Allele 615316.0002 CLINVAR