RGD:127252202 Rat Genome Database

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Variant: RGD:127252202 -  Homo sapiens

RGD ID: 127252202
RS ID: rs2045545035
ClinVar ID: CV1069355
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIF1A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 241,662,077
GRCh38 2 240,722,660
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001379640.1:c.4159-4G>A
NM_001379641.1:c.4162-4G>A
NM_001379650.1:c.4162-4G>A
NM_001379651.1:c.4162-4G>A
More... 		03/19/2020 intron variant likely benign Hereditary sensory and autonomic neuropathy type IIC; Intellectual disability, autosomal dominant 9; Mental retardation, autosomal dominant 9; NESCAV SYNDROME; Neuropathy, hereditary sensory, type 2C; 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_001379637
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379640
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379641
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379638
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379634
Location:INTRON

Gene Symbol:KIF1A
Accession:XM_047444820
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_004321
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001330290
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379631
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379639
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379646
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379632
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379642
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379645
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379649
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379651
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379653
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001244008
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379635
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379648
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001320705
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379636
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379650
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379633
Location:INTRON

Gene Symbol:KIF1A
Accession:XM_047444819
Location:INTRON

Gene Symbol:KIF1A
Accession:XM_047444818
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001330289
Location:INTRON

Gene Symbol:KIF1A
Accession:XM_047444821
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001400306 CLINVAR
dbSNP (RS) rs2045545035 CLINVAR
MedGen C5235139 CLINVAR
NCBI Gene KIF1A CLINVAR
OMIM 601255 CLINVAR
  610357 CLINVAR
  614213 CLINVAR
  614255 CLINVAR