RGD:8599398 Rat Genome Database

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Variant: RGD:8599398 -  Homo sapiens

RGD ID: 8599398
RS ID: rs121908591
ClinVar ID: CV28509
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNA5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 5,154,893
GRCh38 12 5,045,727
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.6809C>T
NC_000012.12:g.5045727C>T
NC_000012.11:g.5154893C>T
NP_002225.2:p.Thr527Met
More... 		09/21/2021 missense|missense variant pathogenic|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNA5
Accession:NM_002234
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 527
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEIALVPLENGGAMTVRGGDEARAGCGQATGGELQCPPTAGLSDGPKEPAPKGRGAQRDADSGVRPLPPLPDPGVRPLPP
LPEELPRPRRPPPEDEEEEGDPGLGTVEDQALGTASLHHQRVHINISGLRFETQLGTLAQFPNTLLGDPAKRLRYFDPLR
NEYFFDRNRPSFDGILYYYQSGGRLRRPVNVSLDVFADEIRFYQLGDEAMERFREDEGFIKEEEKPLPRNEFQRQVWLIF
EYPESSGSARAIAIVSVLVILISIITFCLETLPEFRDERELLRHPPAPHQPPAPAPGANGSGVMAPPSGPTVAPLLPRTL
ADPFFIVETTCVIWFTFELLVRFFACPSKAGFSRNIMNIIDVVAIFPYFITLGTELAEQQPGGGGGGQNGQQAMSLAILR
VIRLVRVFRIFKLSRHSKGLQILGKTLQASMRELGLLIFFLFIGVILFSSAVYFAEADNQGTHFSSIPDAFWWAVVTMTT
VGYGDMRPITVGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHREMDHEEPAVLKEEQGTQSQGPGLDRGVQRKVSGSR
GSFCKAGGTLENADSARRGSCPLEKCNVKAKSNVDLRRSLYALCLDTSRETDL*
Variant Samples
Additional References at PubMed
PMID:19343045   PMID:20646426   PMID:25741868   PMID:26129877   PMID:28492532   PMID:34570182  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000014412 CLINVAR
  RCV000295612 CLINVAR
dbSNP (RS) rs121908591 CLINVAR
MedGen C2677106 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNA5 CLINVAR
OMIM 176267 CLINVAR
  612240 CLINVAR
OMIM Allele 176267.0002 CLINVAR