RGD:10046087 Rat Genome Database

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Variant: RGD:10046087 -  Homo sapiens

RGD ID: 10046087
RS ID: rs12720445
ClinVar ID: CV189357
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNA5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 5,155,046
GRCh38 12 5,045,880
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012198.1:g.6962G>A
NC_000012.12:g.5045880G>A
NC_000012.11:g.5155046G>A
NM_002234.2:c.1733G>A
More... 		10/29/2023 missense variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; none provided; Right bundle branch block, ST segment elevation, and sudden death syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNA5
Accession:NM_002234
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 578
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEIALVPLENGGAMTVRGGDEARAGCGQATGGELQCPPTAGLSDGPKEPAPKGRGAQRDADSGVRPLPPLPDPGVRPLPP
LPEELPRPRRPPPEDEEEEGDPGLGTVEDQALGTASLHHQRVHINISGLRFETQLGTLAQFPNTLLGDPAKRLRYFDPLR
NEYFFDRNRPSFDGILYYYQSGGRLRRPVNVSLDVFADEIRFYQLGDEAMERFREDEGFIKEEEKPLPRNEFQRQVWLIF
EYPESSGSARAIAIVSVLVILISIITFCLETLPEFRDERELLRHPPAPHQPPAPAPGANGSGVMAPPSGPTVAPLLPRTL
ADPFFIVETTCVIWFTFELLVRFFACPSKAGFSRNIMNIIDVVAIFPYFITLGTELAEQQPGGGGGGQNGQQAMSLAILR
VIRLVRVFRIFKLSRHSKGLQILGKTLQASMRELGLLIFFLFIGVILFSSAVYFAEADNQGTHFSSIPDAFWWAVVTMTT
VGYGDMRPITVGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHRETDHEEPAVLKEEQGTQSQGPGLDRGVQRKVSGSR
GSFCKAGGTLENADSARKGSCPLEKCNVKAKSNVDLRRSLYALCLDTSRETDL*
Variant Samples
Additional References at PubMed
PMID:15735608   PMID:16411137   PMID:21306642   PMID:23264583   PMID:23861362   PMID:24068186   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000171809 CLINVAR
  RCV000528153 CLINVAR
  RCV000584775 CLINVAR
  RCV001572979 CLINVAR
dbSNP (RS) rs12720445 CLINVAR
MedGen C2677106 CLINVAR
  C3661900 CLINVAR
  C4551804 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNA5 CLINVAR
OMIM 176267 CLINVAR
  601144 CLINVAR
  612240 CLINVAR