RGD:126758930 Rat Genome Database

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Variant: RGD:126758930 -  Homo sapiens

RGD ID: 126758930
RS ID: rs200813950
ClinVar ID: CV995250
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNA5  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 5,153,930
GRCh38 12 5,044,764
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.617G>C
NG_012198.1:g.5846G>C
NC_000012.12:g.5044764G>C
NC_000012.11:g.5153930G>C
More... 		05/06/2020 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: G to A (nonsynonymous)
Amino Acid Position: 206
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEIALVPLENGGAMTVRGGDEARAGCGQATGGELQCPPTAGLSDGPKEPAPKGRGAQRDADSGVRPLPPLPDPGVRPLPP
LPEELPRPRRPPPEDEEEEGDPGLGTVEDQALGTASLHHQRVHINISGLRFETQLGTLAQFPNTLLGDPAKRLRYFDPLR
NEYFFDRNRPSFDGILYYYQSGGRLRRPVNVSLDVFADEIRFYQLADEAMERFREDEGFIKEEEKPLPRNEFQRQVWLIF
EYPESSGSARAIAIVSVLVILISIITFCLETLPEFRDERELLRHPPAPHQPPAPAPGANGSGVMAPPSGPTVAPLLPRTL
ADPFFIVETTCVIWFTFELLVRFFACPSKAGFSRNIMNIIDVVAIFPYFITLGTELAEQQPGGGGGGQNGQQAMSLAILR
VIRLVRVFRIFKLSRHSKGLQILGKTLQASMRELGLLIFFLFIGVILFSSAVYFAEADNQGTHFSSIPDAFWWAVVTMTT
VGYGDMRPITVGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHRETDHEEPAVLKEEQGTQSQGPGLDRGVQRKVSGSR
GSFCKAGGTLENADSARRGSCPLEKCNVKAKSNVDLRRSLYALCLDTSRETDL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001308871 CLINVAR
dbSNP (RS) rs200813950 CLINVAR
MedGen C2677106 CLINVAR
NCBI Gene KCNA5 CLINVAR
OMIM 176267 CLINVAR
  612240 CLINVAR