RGD:14712492 Rat Genome Database

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Variant: RGD:14712492 -  Homo sapiens

RGD ID: 14712492
RS ID: rs371500484
ClinVar ID: CV653471
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIF1C  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 4,904,701
GRCh38 17 5,001,406
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006612.5:c.363+5G>A
NC_000017.10:g.4904701G>A
NG_034137.1:g.8459G>A
NM_006612.6:c.363+5G>A
More... 		11/30/2018 intron variant uncertain significance Ataxia, spastic, 2, autosomal recessive; Familial spastic paraparesis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KIF1C
Accession:NM_006612
Location:INTRON

Gene Symbol:KIF1C
Accession:XM_005256424
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000820963 CLINVAR
  RCV001849124 CLINVAR
dbSNP (RS) rs371500484 CLINVAR
MedGen C0037773 CLINVAR
  C1969796 CLINVAR
NCBI Gene KIF1C CLINVAR
OMIM 603060 CLINVAR
  611302 CLINVAR
SNOMED CT 39912006 CLINVAR