RGD:28911972 Rat Genome Database

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Variant: RGD:28911972 -  Homo sapiens

RGD ID: 28911972
RS ID: rs760763129
ClinVar ID: CV870210
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIF5A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 57,944,010
GRCh38 12 57,550,227
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354705.2:c.-45C>T
NM_004984.4:c.-45C>T
NG_047120.1:g.2105G>A
NG_008155.1:g.5164C>T
More... 		01/13/2018 5 prime utr variant uncertain significance SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY; SPASTIC PARAPLEGIA 10 WITH PERIPHERAL NEUROPATHY; SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KIF5A
Accession:NM_001354705
Location:5UTRS;EXON

Gene Symbol:KIF5A
Accession:NM_004984
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001111423 CLINVAR
dbSNP (RS) rs760763129 CLINVAR
MedGen C1858712 CLINVAR
NCBI Gene KIF5A CLINVAR
OMIM 602821 CLINVAR
  604187 CLINVAR