rs2135904871 Rat Genome Database

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Variant: rs2135904871 -  Homo sapiens

RGD ID: 153346310
RS ID: rs2135904871
ClinVar ID: CV1691640
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIF11  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 94,372,796
GRCh38 10 92,613,039
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004523.3:c.699-1G>C
NM_004523.4:c.699-1G>C
NC_000010.10:g.94372796G>C
NG_032580.1:g.24972G>C
More... 		02/02/2022 splice acceptor variant likely pathogenic 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   PMID:24281367   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002273123 CLINVAR
dbSNP (RS) rs2135904871 CLINVAR
MedGen C1835265 CLINVAR
NCBI Gene KIF11 CLINVAR
OMIM 148760 CLINVAR
  152950 CLINVAR
  156590 CLINVAR