RGD:14352005 Rat Genome Database

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Variant: RGD:14352005 -  Homo sapiens

RGD ID: 14352005
RS ID: rs779101828
ClinVar ID: CV590745
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNA4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 30,033,960
GRCh38 11 30,012,413
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002233.4:c.266G>A
NG_042309.1:g.9618G>A
NC_000011.10:g.30012413C>T
NC_000011.9:g.30033960C>T
More... 		09/25/2019 missense variant pathogenic|uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNA4
Accession:NM_002233
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 89
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVAMVSAESSGCNSHMPYGYAAQARARERERLAHSRAAAAAAVAAATAAVEGSGGSGGGSHHHHQSRGACTSHDPQSSR
GSRRRRRQQSEKKKAHYRQSSFPHCSDLMPSGSEEKILRELSEEEEDEEEEEEEEEEGRFYYSEDDHGDECSYTDLLPQD
EGGGGYSSVRYSDCCERVVINVSGLRFETQMKTLAQFPETLLGDPEKRTQYFDPLRNEYFFDRNRPSFDAILYYYQSGGR
LKRPVNVPFDIFTEEVKFYQLGEEALLKFREDEGFVREEEDRALPENEFKKQIWLLFEYPESSSPARGIAIVSVLVILIS
IVIFCLETLPEFRDDRDLVMALSAGGHGGLLNDTSAPHLENSGHTIFNDPFFIVETVCIVWFSFEFVVRCFACPSQALFF
KNIMNIIDIVSILPYFITLGTDLAQQQGGGNGQQQQAMSFAILRIIRLVRVFRIFKLSRHSKGLQILGHTLRASMRELGL
LIFFLFIGVILFSSAVYFAEADEPTTHFQSIPDAFWWAVVTMTTVGYGDMKPITVGGKIVGSLCAIAGVLTIALPVPVIV
SNFNYFYHRETENEEQTQLTQNAVSCPYLPSNLLKKFRSSTSSSLGDKSEYLEMEEGVKESLCAKEEKCQGKGDDSETDK
NNCSNAKAVETDV*
Variant Samples
Additional References at PubMed
PMID:23181898   PMID:25741868   PMID:27582084  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000736033 CLINVAR
dbSNP (RS) rs779101828 CLINVAR
MedGen C4748984 CLINVAR
NCBI Gene KCNA4 CLINVAR
OMIM 176266 CLINVAR
  618284 CLINVAR
OMIM Allele 176266.0001 CLINVAR