RGD:156094617 Rat Genome Database

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Variant: RGD:156094617 -  Homo sapiens

RGD ID: 156094617
ClinVar ID: CV2010461
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIF11  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 94,397,181
GRCh38 10 92,637,424
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004523.4:c.2039G>A
NG_032580.1:g.49357G>A
NC_000010.11:g.92637424G>A
NC_000010.10:g.94397181G>A
More... 		06/16/2023 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:KIF11
Accession:NM_004523
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 680
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASQPNSSAKKKEEKGKNIQVVVRCRPFNLAERKASAHSIVECDPVRKEVSVRTGGLADKSSRKTYTFDMVFGASTKQID
VYRSVVCPILDEVIMGYNCTIFAYGQTGTGKTFTMEGERSPNEEYTWEEDPLAGIIPRTLHQIFEKLTDNGTEFSVKVSL
LEIYNEELFDLLNPSSDVSERLQMFDDPRNKRGVIIKGLEEITVHNKDEVYQILEKGAAKRTTAATLMNAYSSRSHSVFS
VTIHMKETTIDGEELVKIGKLNLVDLAGSENIGRSGAVDKRAREAGNINQSLLTLGRVITALVERTPHVPYRESKLTRIL
QDSLGGRTRTSIIATISPASLNLEETLSTLEYAHRAKNILNKPEVNQKLTKKALIKEYTEEIERLKRDLAAAREKNGVYI
SEENFRVMSGKLTVQEEQIVELIEKIGAVEEELNRVTELFMDNKNELDQCKSDLQNKTQELETTQKHLQETKLQLVKEEY
ITSALESTEEKLHDAASKLLNTVEETTKDVSGLHSKLDRKKAVDQHNAEAQDIFGKNLNSLFNNMEELIKDGSSKQKAML
EVHKTLFGNLLSSSVSALDTITTVALGSLTSIPENVSTHVSQIFNMILKEQSLAAESKTVLQELINVLKTDLLSSLEMIL
SPTVVSILKINSQLKHIFKTSLTVADKIEDQKKELDGFLNILCNNLHELQENTICSLVESQKQCGNLTEDLKTIKQTHSQ
ELCKLMNLWTERFCALEEKCENIQKPLSSVQENIQQKSKDIVNKMTFHSQKFCADSDGFSQELRNFNQEGTKLVEESVKH
SDKLNGNLEKISQETEQRCESLNTRTVYFSEQWVSSLNEREQELHNLLEVVSQCCEASSSDITEKSDGRKAAHEKQHNIF
LDQMTIDEDKLIAQNLELNETIKIGLTKLNCFLEQDLKLDIPTGTTPQRKSYLYPSTLVRTEPREHLLDQLKRKQPELLM
MLNCSENNKEETIPDVDVEEAVLGQYTEEPLSQEPSVDAGVDCSSIGGVPFFQHKKSHGKDKENRGINTLERSKVEETTE
HLVTKSRLPLRAQINL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002695069 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KIF11 CLINVAR
OMIM 148760 CLINVAR