RGD:10397633 Rat Genome Database

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Variant: RGD:10397633 -  Homo sapiens

RGD ID: 10397633
RS ID: rs796052604
ClinVar ID: CV201060
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ10  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 160,012,102
GRCh38 1 160,042,312
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.32860C>T
NC_000001.11:g.160042312G>A
NC_000001.10:g.160012102G>A
NP_002232.2:p.Thr74Ile
More... 		11/03/2017 missense variant likely pathogenic|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: T to I (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSVAKVYYSQTTQTESRPLMGPGIRRRRVLTKDGRSNVRMEHIADKRFLYLKDLWTTFIDMQWRYKLLLFSAIFAGTWF
LFGVVWYLVAVAHGDLLELDPPANHTPCVVQVHTLTGAFLFSLESQTTIGYGFRYISEECPLAIVLLIAQLVLTTILEIF
ITGTFLAKIARPKKRAETIRFSQHAVVASHNGKPCLMIRVANMRKSLLIGCQVTGKLLQTHQTKEGENIRLNQVNVTFQV
DTASDSPFLILPLTFYHVVDETSPLKDLPLRSGEGDFELVLILSGTVESTSATCQVRTSYLPEEILWGYEFTPAISLSAS
GKYIADFSLFDQVVKVASPSGLRDSTVRYGDPEKLKLEESLREQAEKEGSALSVRISNV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000187806 CLINVAR
  RCV000646754 CLINVAR
dbSNP (RS) rs796052604 CLINVAR
MedGen C2748572 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNJ10 CLINVAR
OMIM 602208 CLINVAR
  612780 CLINVAR