RGD:10396189 Rat Genome Database

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Variant: RGD:10396189 -  Homo sapiens

RGD ID: 10396189
RS ID: rs759993423
ClinVar ID: CV201061
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ10  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 160,012,144
GRCh38 1 160,042,354
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.32818T>C
NC_000001.11:g.160042354A>G
NC_000001.10:g.160012144A>G
NP_002232.2:p.Ile60Thr
More... 		12/01/2022 missense variant pathogenic|conflicting interpretations of pathogenicity|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


Variant Details
Variant Transcripts
Gene Symbol:KCNJ10
Accession:NM_002241
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSVAKVYYSQTTQTESRPLMGPGIRRRRVLTKDGRSNVRMEHIADKRFLYLKDLWTTFTDMQWRYKLLLFSATFAGTWF
LFGVVWYLVAVAHGDLLELDPPANHTPCVVQVHTLTGAFLFSLESQTTIGYGFRYISEECPLAIVLLIAQLVLTTILEIF
ITGTFLAKIARPKKRAETIRFSQHAVVASHNGKPCLMIRVANMRKSLLIGCQVTGKLLQTHQTKEGENIRLNQVNVTFQV
DTASDSPFLILPLTFYHVVDETSPLKDLPLRSGEGDFELVLILSGTVESTSATCQVRTSYLPEEILWGYEFTPAISLSAS
GKYIADFSLFDQVVKVASPSGLRDSTVRYGDPEKLKLEESLREQAEKEGSALSVRISNV*
Variant Samples
Additional References at PubMed
PMID:28492532   PMID:29191078  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000187814 CLINVAR
  RCV000646755 CLINVAR
  RCV002311273 CLINVAR
dbSNP (RS) rs759993423 CLINVAR
MedGen C0950123 CLINVAR
  C2748572 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNJ10 CLINVAR
OMIM 602208 CLINVAR
  612780 CLINVAR