RGD:11584703 Rat Genome Database

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Variant: RGD:11584703 -  Homo sapiens

RGD ID: 11584703
RS ID: rs773115422
ClinVar ID: CV286221
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIF1A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 241,655,951
GRCh38 2 240,716,534
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.108674C>T
NC_000002.12:g.240716534G>A
NC_000002.11:g.241655951G>A
NM_004321.6:c.*830C>T
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_001379649
Location:3UTRS;EXON

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000333294 CLINVAR
dbSNP (RS) rs773115422 CLINVAR
MedGen C5235139 CLINVAR
NCBI Gene KIF1A CLINVAR
OMIM 601255 CLINVAR
  610357 CLINVAR