RGD:127300774 Rat Genome Database

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Variant: RGD:127300774 -  Homo sapiens

RGD ID: 127300774
RS ID: rs749141270
ClinVar ID: CV1122704
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNA5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 5,153,448
GRCh38 12 5,044,282
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.135G>A
NG_012198.1:g.5364G>A
NC_000012.12:g.5044282G>A
NC_000012.11:g.5153448G>A
More... 		10/08/2020 synonymous variant likely benign
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 G (synonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEIALVPLENGGAMTVRGGDEARAGCGQATGGELQCPPTAGLSDGPKEPAPKGRGAQRDADSGVRPLPPLPDPGVRPLPP
LPEELPRPRRPPPEDEEEEGDPGLGTVEDQALGTASLHHQRVHINISGLRFETQLGTLAQFPNTLLGDPAKRLRYFDPLR
NEYFFDRNRPSFDGILYYYQSGGRLRRPVNVSLDVFADEIRFYQLGDEAMERFREDEGFIKEEEKPLPRNEFQRQVWLIF
EYPESSGSARAIAIVSVLVILISIITFCLETLPEFRDERELLRHPPAPHQPPAPAPGANGSGVMAPPSGPTVAPLLPRTL
ADPFFIVETTCVIWFTFELLVRFFACPSKAGFSRNIMNIIDVVAIFPYFITLGTELAEQQPGGGGGGQNGQQAMSLAILR
VIRLVRVFRIFKLSRHSKGLQILGKTLQASMRELGLLIFFLFIGVILFSSAVYFAEADNQGTHFSSIPDAFWWAVVTMTT
VGYGDMRPITVGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHRETDHEEPAVLKEEQGTQSQGPGLDRGVQRKVSGSR
GSFCKAGGTLENADSARRGSCPLEKCNVKAKSNVDLRRSLYALCLDTSRETDL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001478482 CLINVAR
dbSNP (RS) rs749141270 CLINVAR
MedGen C2677106 CLINVAR
NCBI Gene KCNA5 CLINVAR
OMIM 176267 CLINVAR
  612240 CLINVAR