RGD:8659797 Rat Genome Database

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Variant: RGD:8659797 -  Homo sapiens

RGD ID: 8659797
RS ID: rs115466046
ClinVar ID: CV134762
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ10  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 160,012,270
GRCh38 1 160,042,480
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_016411.1:g.32692G>A
NC_000001.11:g.160042480C>T
NC_000001.10:g.160012270C>T
p.R18Q
More... 		12/31/2019 missense|missense variant benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters infancy|neonatal <1 / 1 000 000 AllHighlyPenetrant; Autistic disorder; Autistic disorder of childhood onset; Epilepsy, ataxia, sensorineural deafness and tubulopathy; Intellectual developmental disorder; intellectual disabilities; Intellectual disability; Intellectual functioning disability; none provided; Seizure; Seizures; 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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Intellectual disability  (IAGP)
Seizure  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:KCNJ10
Accession:NM_002241
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSVAKVYYSQTTQTESQPLMGPGIRRRRVLTKDGRSNVRMEHIADKRFLYLKDLWTTFIDMQWRYKLLLFSATFAGTWF
LFGVVWYLVAVAHGDLLELDPPANHTPCVVQVHTLTGAFLFSLESQTTIGYGFRYISEECPLAIVLLIAQLVLTTILEIF
ITGTFLAKIARPKKRAETIRFSQHAVVASHNGKPCLMIRVANMRKSLLIGCQVTGKLLQTHQTKEGENIRLNQVNVTFQV
DTASDSPFLILPLTFYHVVDETSPLKDLPLRSGEGDFELVLILSGTVESTSATCQVRTSYLPEEILWGYEFTPAISLSAS
GKYIADFSLFDQVVKVASPSGLRDSTVRYGDPEKLKLEESLREQAEKEGSALSVRISNV*
Variant Samples
Additional References at PubMed
PMID:21458570   PMID:23965030   PMID:25741868   PMID:26467025   PMID:27182706   PMID:27535533   PMID:27677466   PMID:27884173   PMID:28492532   PMID:29615871   PMID:30304693  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000117319 CLINVAR
  RCV000234164 CLINVAR
  RCV000710154 CLINVAR
  RCV001258301 CLINVAR
  RCV002312144 CLINVAR
dbSNP (RS) rs115466046 CLINVAR
MedGen C0004352 CLINVAR
  C0950123 CLINVAR
  C2748572 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNJ10 CLINVAR
OMIM 209850 CLINVAR
  602208 CLINVAR
  612780 CLINVAR
SNOMED CT 408856003 CLINVAR