RGD:13821861 Rat Genome Database

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Variant: RGD:13821861 -  Homo sapiens

RGD ID: 13821861
RS ID: rs1559527796
ClinVar ID: CV560549
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIF1A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 241,724,518
GRCh38 2 240,785,101
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.40107G>A
NC_000002.12:g.240785101C>T
NC_000002.11:g.241724518C>T
NM_004321.6:c.609-1G>A
More... 		01/23/2018 splice acceptor variant likely pathogenic 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_001330290
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379635
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379631
Location:INTRON

Gene Symbol:KIF1A
Accession:XM_047444818
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379632
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379642
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379646
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001244008
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001330289
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379636
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379653
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379645
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379649
Location:INTRON

Gene Symbol:KIF1A
Accession:XM_047444821
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001320705
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379650
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379641
Location:INTRON

Gene Symbol:KIF1A
Accession:XM_047444820
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379639
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379634
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379651
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379637
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_004321
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379640
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379633
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379648
Location:INTRON

Gene Symbol:KIF1A
Accession:NM_001379638
Location:INTRON

Gene Symbol:KIF1A
Accession:XM_047444819
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:21820098   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000696483 CLINVAR
dbSNP (RS) rs1559527796 CLINVAR
MedGen C5235139 CLINVAR
NCBI Gene KIF1A CLINVAR
OMIM 601255 CLINVAR
  610357 CLINVAR
  614213 CLINVAR
  614255 CLINVAR