rs1064796738 Rat Genome Database

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Variant: rs1064796738 -  Homo sapiens

RGD ID: 12895087
RS ID: rs1064796738
ClinVar ID: CV408021
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIF11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 94,366,412
GRCh38 10 92,606,655
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032580.1:g.18588C>T
NC_000010.11:g.92606655C>T
NC_000010.10:g.94366412C>T
NP_004514.2:p.Arg83Ter
More... 		11/12/2022 nonsense pathogenic|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; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KIF11
Accession:NM_004523
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASQPNSSAKKKEEKGKNIQVVVRCRPFNLAERKASAHSIVECDPVRKEVSVRTGGLADKSSRKTYTFDMVFGASTKQID
VY*SVVCPILDEVIMGYNCTIFAYGQTGTGKTFTMEGERSPNEEYTWEEDPLAGIIPRTLHQIFEKLTDNGTEFSVKVSL
LEIYNEELFDLLNPSSDVSERLQMFDDPRNKRGVIIKGLEEITVHNKDEVYQILEKGAAKRTTAATLMNAYSSRSHSVFS
VTIHMKETTIDGEELVKIGKLNLVDLAGSENIGRSGAVDKRAREAGNINQSLLTLGRVITALVERTPHVPYRESKLTRIL
QDSLGGRTRTSIIATISPASLNLEETLSTLEYAHRAKNILNKPEVNQKLTKKALIKEYTEEIERLKRDLAAAREKNGVYI
SEENFRVMSGKLTVQEEQIVELIEKIGAVEEELNRVTELFMDNKNELDQCKSDLQNKTQELETTQKHLQETKLQLVKEEY
ITSALESTEEKLHDAASKLLNTVEETTKDVSGLHSKLDRKKAVDQHNAEAQDIFGKNLNSLFNNMEELIKDGSSKQKAML
EVHKTLFGNLLSSSVSALDTITTVALGSLTSIPENVSTHVSQIFNMILKEQSLAAESKTVLQELINVLKTDLLSSLEMIL
SPTVVSILKINSQLKHIFKTSLTVADKIEDQKKELDGFLSILCNNLHELQENTICSLVESQKQCGNLTEDLKTIKQTHSQ
ELCKLMNLWTERFCALEEKCENIQKPLSSVQENIQQKSKDIVNKMTFHSQKFCADSDGFSQELRNFNQEGTKLVEESVKH
SDKLNGNLEKISQETEQRCESLNTRTVYFSEQWVSSLNEREQELHNLLEVVSQCCEASSSDITEKSDGRKAAHEKQHNIF
LDQMTIDEDKLIAQNLELNETIKIGLTKLNCFLEQDLKLDIPTGTTPQRKSYLYPSTLVRTEPREHLLDQLKRKQPELLM
MLNCSENNKEETIPDVDVEEAVLGQYTEEPLSQEPSVDAGVDCSSIGGVPFFQHKKSHGKDKENRGINTLERSKVEETTE
HLVTKSRLPLRAQINL*
Variant Samples
Additional References at PubMed
PMID:22284827   PMID:24281367   PMID:25115524   PMID:25124931   PMID:25741868   PMID:28492532   PMID:31077665  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000485224 CLINVAR
  RCV000678377 CLINVAR
dbSNP (RS) rs1064796738 CLINVAR
MedGen C1835265 CLINVAR
  C3661900 CLINVAR
NCBI Gene KIF11 CLINVAR
OMIM 148760 CLINVAR
  152950 CLINVAR
  156590 CLINVAR