RGD:38463039 Rat Genome Database

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Variant: RGD:38463039 -  Homo sapiens

RGD ID: 38463039
RS ID: rs779347174
ClinVar ID: CV920174
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIF1A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 241,685,607
GRCh38 2 240,746,190
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004321.8:c.2761-13C>T
NM_001379646.1:c.2863-13C>T
NM_001379632.1:c.3013-13C>T
NM_001379633.1:c.3037-13C>T
More... 		10/29/2021 intron variant likely benign|uncertain significance ACROOSTEOLYSIS, GIACCAI TYPE; ACROOSTEOLYSIS, NEUROGENIC; Hereditary sensory and autonomic neuropathy type IIA; Hereditary sensory and autonomic neuropathy type IIC; HSAN IIA; Intellectual disability, autosomal dominant 9; Mental retardation, autosomal dominant 9; NESCAV SYNDROME; NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE; Neuropathy, hereditary sensory, type 2C; NEUROPATHY, HEREDITARY SENSORY, TYPE IIA; 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_001379649
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379631
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379632
Location:INTRON

Gene Symbol:KIF1A
Accession:XM_047444820
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379648
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379646
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379653
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379639
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379637
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379634
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_004321
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001330289
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001320705
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379640
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379638
Location:INTRON

Gene Symbol:KIF1A
Accession:XM_047444819
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379642
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379635
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379636
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001244008
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379650
Location:INTRON

Gene Symbol:KIF1A
Accession:XM_047444821
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001330290
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379645
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379651
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379641
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379633
Location:INTRON

Gene Symbol:KIF1A
Accession:XM_047444818
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001198619 CLINVAR
  RCV002071853 CLINVAR
dbSNP (RS) rs779347174 CLINVAR
MedGen C2752089 CLINVAR
  C5235139 CLINVAR
NCBI Gene KIF1A CLINVAR
OMIM 201300 CLINVAR
  601255 CLINVAR
  610357 CLINVAR
  614213 CLINVAR
  614255 CLINVAR