RGD:41405982 Rat Genome Database

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Variant: RGD:41405982 -  Homo sapiens

RGD ID: 41405982
RS ID: rs1882102799
ClinVar ID: CV982828
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIF5A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 57,961,274
GRCh38 12 57,567,491
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.57567491C>T
NC_000012.11:g.57961274C>T
NM_004984.2:c.590-3C>T
NM_004984.4:c.590-3C>T
More... 		01/17/2020 intron variant uncertain significance 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:9536098   PMID:17576681   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001287993 CLINVAR
  RCV001322469 CLINVAR
dbSNP (RS) rs1882102799 CLINVAR
MedGen C0037772 CLINVAR
  C3661900 CLINVAR
NCBI Gene KIF5A CLINVAR
OMIM 602821 CLINVAR