RGD:401771058 Rat Genome Database

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Variant: RGD:401771058 -  Homo sapiens

RGD ID: 401771058
ClinVar ID: CV2700835
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WFIKKN1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 682,645
GRCh38 16 632,645
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_053284.3:c.235C>T
NC_000016.10:g.632645C>T
NC_000016.9:g.682645C>T
NM_053284.2:c.235C>T
More... 		04/18/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:WFIKKN1
Accession:NM_053284
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPALRPLLPLLLLLRLTSGAGLLPGLGSHPGVCPNQLSPNLWVDAQSTCERECSRDQDCAAAEKCCINVCGLHSCVAACF
PGSPAAPTTAASCEGFVCPQQGSDCDIWDGQPVCRCRDRCEKEPSFTCASDGLTYYNRCYMDAEACLRGLHLHIVPCKHV
LSWPPSSPGPPETTARPTPGAAPVPPALYSSPSPQAVQVGGTASLHCDVSGRPPPAVTWEKQSHQRENLIMRPDQMYGNV
VVTSIGQLVLYNARPEDAGLYTCTARNAAGLLRADFPLSVVQREPARDAAPSIPAPAECLPDVQACTGPTSPHLVLWHYD
PQRGGCMTFPARGCDGAARGFETYEACQQACARGPGDACVLPAVQGPCRGWEPRWAYSPLLQQCHPFVYGGCEGNGNNFH
SRESCEDACPVPRTPPCRACRLRSKLALSLCRSDFAIVGRLTEVLEEPEAAGGIARVALEDVLKDDKMGLKFLGTKYLEV
TLSGMDWACPCPNMTAGDGPLVIMGEVRDGVAVLDAGSYVRAASEKRVKKILELLEKQACELLNRFQD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003261324 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene WFIKKN1 CLINVAR
OMIM 608021 CLINVAR