RGD:12840707 Rat Genome Database

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Variant: RGD:12840707 -  Homo sapiens

RGD ID: 12840707
RS ID: rs1057522322
ClinVar ID: CV373211
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIF5A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 57,976,379
GRCh38 12 57,582,596
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008155.1:g.37533C>T
NC_000012.12:g.57582596C>T
NC_000012.11:g.57976379C>T
NM_004984.2:c.2993-6C>T
More... 		03/02/2022 intron variant likely benign|uncertain significance AllHighlyPenetrant; none provided
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:KIF5A
Accession:NM_004984
Location:INTRON

Gene Symbol:KIF5A
Accession:NM_001354705
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000431230 CLINVAR
  RCV003133260 CLINVAR
  RCV003750790 CLINVAR
dbSNP (RS) rs1057522322 CLINVAR
MedGen C0037772 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene KIF5A CLINVAR
OMIM 602821 CLINVAR