RGD:126752989 Rat Genome Database

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Variant: RGD:126752989 -  Homo sapiens

RGD ID: 126752989
RS ID: rs1862773506
ClinVar ID: CV1010485
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNA5  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 5,155,069
GRCh38 12 5,045,903
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002234.4:c.1756T>G
NG_012198.1:g.6985T>G
NC_000012.12:g.5045903T>G
NC_000012.11:g.5155069T>G
More... 		06/04/2020 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNA5
Accession:NM_002234
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 586
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEIALVPLENGGAMTVRGGDEARAGCGQATGGELQCPPTAGLSDGPKEPAPKGRGAQRDADSGVRPLPPLPDPGVRPLPP
LPEELPRPRRPPPEDEEEEGDPGLGTVEDQALGTASLHHQRVHINISGLRFETQLGTLAQFPNTLLGDPAKRLRYFDPLR
NEYFFDRNRPSFDGILYYYQSGGRLRRPVNVSLDVFADEIRFYQLGDEAMERFREDEGFIKEEEKPLPRNEFQRQVWLIF
EYPESSGSARAIAIVSVLVILISIITFCLETLPEFRDERELLRHPPAPHQPPAPAPGANGSGVMAPPSGPTVAPLLPRTL
ADPFFIVETTCVIWFTFELLVRFFACPSKAGFSRNIMNIIDVVAIFPYFITLGTELAEQQPGGGGGGQNGQQAMSLAILR
VIRLVRVFRIFKLSRHSKGLQILGKTLQASMRELGLLIFFLFIGVILFSSAVYFAEADNQGTHFSSIPDAFWWAVVTMTT
VGYGDMRPITVGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHRETDHEEPAVLKEEQGTQSQGPGLDRGVQRKVSGSR
GSFCKAGGTLENADSARRGSCPLEKGNVKAKSNVDLRRSLYALCLDTSRETDL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001316407 CLINVAR
  RCV003983874 CLINVAR
dbSNP (RS) rs1862773506 CLINVAR
MedGen C2677106 CLINVAR
NCBI Gene KCNA5 CLINVAR
OMIM 176267 CLINVAR
  612240 CLINVAR