RGD:11583082 Rat Genome Database

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Variant: RGD:11583082 -  Homo sapiens

RGD ID: 11583082
RS ID: rs184324379
ClinVar ID: CV286217
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIF1A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 241,654,821
GRCh38 2 240,715,404
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029724.1:g.109804G>A
NC_000002.12:g.240715404C>T
NC_000002.11:g.241654821C>T
NM_004321.6:c.*1960G>A
More... 		01/12/2018 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_001379633
Location:3UTRS;EXON

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Gene Symbol:KIF1A
Accession:NM_001379650
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_001379649
Location:3UTRS;EXON

Gene Symbol:KIF1A
Accession:NM_004321
Location:3UTRS;EXON

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000264376 CLINVAR
dbSNP (RS) rs184324379 CLINVAR
MedGen C5235139 CLINVAR
NCBI Gene KIF1A CLINVAR
OMIM 601255 CLINVAR
  610357 CLINVAR