RGD:28901365 Rat Genome Database

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Variant: RGD:28901365 -  Homo sapiens

RGD ID: 28901365
RS ID: rs192120362
ClinVar ID: CV884363
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIF1A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 241,654,419
GRCh38 2 240,715,002
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001320705.2:c.*2362G>A
NM_001330289.2:c.*2362G>A
NM_001330290.2:c.*2362G>A
LRG_367:g.110206G>A
More...
01/13/2018 3 prime utr variant uncertain significance SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT; Spastic paraplegia 30, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KIF1A
Accession:NM_004321
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001244008
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001320705
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001330289
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001330290
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001379653
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001379650
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001379645
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001379635
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001379640
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001379641
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001379639
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001379649
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001379636
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001379632
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001379633
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001379642
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001379637
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001379648
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001379638
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001379646
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001379634
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001379631
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_001379651
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:XM_047444819
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:XM_047444821
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:XM_047444820
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:XM_047444818
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001143150 CLINVAR
dbSNP (RS) rs192120362 CLINVAR
MedGen C5235139 CLINVAR
NCBI Gene KIF1A CLINVAR
OMIM 601255 CLINVAR
  610357 CLINVAR