RGD:8599399 Rat Genome Database

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Variant: RGD:8599399 -  Homo sapiens

RGD ID: 8599399
RS ID: rs121908592
ClinVar ID: CV28510
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNA5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 5,155,040
GRCh38 12 5,045,874
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.6956C>T
NC_000012.12:g.5045874C>T
NC_000012.11:g.5155040C>T
NP_002225.2:p.Ala576Val
More...
09/25/2022 missense|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNA5
Accession:NM_002234
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 576
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEIALVPLENGGAMTVRGGDEARAGCGQATGGELQCPPTAGLSDGPKEPAPKGRGAQRDADSGVRPLPPLPDPGVRPLPP
LPEELPRPRRPPPEDEEEEGDPGLGTVEDQALGTASLHHQRVHINISGLRFETQLGTLAQFPNTLLGDPAKRLRYFDPLR
NEYFFDRNRPSFDGILYYYQSGGRLRRPVNVSLDVFADEIRFYQLGDEAMERFREDEGFIKEEEKPLPRNEFQRQVWLIF
EYPESSGSARAIAIVSVLVILISIITFCLETLPEFRDERELLRHPPAPHQPPAPAPGANGSGVMAPPSGPTVAPLLPRTL
ADPFFIVETTCVIWFTFELLVRFFACPSKAGFSRNIMNIIDVVAIFPYFITLGTELAEQQPGGGGGGQNGQQAMSLAILR
VIRLVRVFRIFKLSRHSKGLQILGKTLQASMRELGLLIFFLFIGVILFSSAVYFAEADNQGTHFSSIPDAFWWAVVTMTT
VGYGDMRPITVGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHRETDHEEPAVLKEEQGTQSQGPGLDRGVQRKVSGSR
GSFCKAGGTLENADSVRRGSCPLEKCNVKAKSNVDLRRSLYALCLDTSRETDL*

Variant Samples
Additional References at PubMed
PMID:19343045   PMID:25741868   PMID:28492532   PMID:31727138  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000014413 CLINVAR
dbSNP (RS) rs121908592 CLINVAR
MedGen C2677106 CLINVAR
NCBI Gene KCNA5 CLINVAR
OMIM 176267 CLINVAR
  612240 CLINVAR
OMIM Allele 176267.0003 CLINVAR