rs730882063 Rat Genome Database

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Variant: rs730882063 -  Homo sapiens

RGD ID: 8567912
RS ID: rs730882063
ClinVar ID: CV38727
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIF11  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 94,405,401
GRCh38 10 92,645,644
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_032580.1:g.57577T>C
NC_000010.11:g.92645644T>C
NC_000010.10:g.94405401T>C
NM_004523.4:c.2547+2T>C
More... 		02/19/2015 splice donor variant pathogenic neonatal/infancy <1 / 1 000 000 Lymphedema, microcephaly and chorioretinopathy syndrome; MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION, AUTOSOMAL DOMINANT; Microcephaly lymphedema chorioretinal dysplasia; MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT; Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation; MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KIF11
Accession:NM_004523
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:22284827  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000022638 CLINVAR
dbSNP (RS) rs730882063 CLINVAR
MedGen C1835265 CLINVAR
NCBI Gene KIF11 CLINVAR
OMIM 148760 CLINVAR
  152950 CLINVAR
  156590 CLINVAR
OMIM Allele 148760.0005 CLINVAR