RGD:10396192 Rat Genome Database

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Variant: RGD:10396192 -  Homo sapiens

RGD ID: 10396192
RS ID: rs750091894
ClinVar ID: CV201051
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ10  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 160,011,325
GRCh38 1 160,041,535
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016411.1:g.33637T>C
NC_000001.11:g.160041535A>G
NC_000001.10:g.160011325A>G
NP_002232.2:p.Val333Ala
More... 		08/07/2018 missense variant uncertain significance Epilepsy, ataxia, sensorineural deafness and tubulopathy; none provided; SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ELECTROLYTE IMBALANCE; Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; SeSAME syndrome
Disease Annotations     Click to see Annotation Detail View
EAST syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:KCNJ10
Accession:NM_002241
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 333
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSVAKVYYSQTTQTESRPLMGPGIRRRRVLTKDGRSNVRMEHIADKRFLYLKDLWTTFIDMQWRYKLLLFSATFAGTWF
LFGVVWYLVAVAHGDLLELDPPANHTPCVVQVHTLTGAFLFSLESQTTIGYGFRYISEECPLAIVLLIAQLVLTTILEIF
ITGTFLAKIARPKKRAETIRFSQHAVVASHNGKPCLMIRVANMRKSLLIGCQVTGKLLQTHQTKEGENIRLNQVNVTFQV
DTASDSPFLILPLTFYHVVDETSPLKDLPLRSGEGDFELVLILSGTVESTSATCQVRTSYLPEEILWGYEFTPAISLSAS
GKYIADFSLFDQAVKVASPSGLRDSTVRYGDPEKLKLEESLREQAEKEGSALSVRISNV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000187818 CLINVAR
  RCV000796670 CLINVAR
dbSNP (RS) rs750091894 CLINVAR
MedGen C2748572 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNJ10 CLINVAR
OMIM 602208 CLINVAR
  612780 CLINVAR