RGD:15131118 Rat Genome Database

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Variant: RGD:15131118 -  Homo sapiens

RGD ID: 15131118
RS ID: rs368007738
ClinVar ID: CV695026
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IBA57  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 228,362,386
GRCh38 1 228,174,685
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001310327.2:c.-238-7C>A
NM_001010867.4:c.342-7C>A
NG_042231.1:g.13878C>A
NC_000001.11:g.228174685C>A
More... 		11/16/2018 intron variant benign Hereditary spastic paraplegia 74; none provided; Spastic paraplegia 74, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IBA57
Accession:NM_001310327
Location:5UTRS;INTRON

Gene Symbol:IBA57
Accession:NM_001010867
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000875930 CLINVAR
  RCV001521029 CLINVAR
  RCV003948241 CLINVAR
dbSNP (RS) rs368007738 CLINVAR
MedGen C3661900 CLINVAR
  C3809165 CLINVAR
NCBI Gene IBA57 CLINVAR
OMIM 615316 CLINVAR
  615330 CLINVAR
  616451 CLINVAR