RGD:13213501 Rat Genome Database

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Variant: RGD:13213501 -  Homo sapiens

RGD ID: 13213501
RS ID: rs144428351
ClinVar ID: CV427659
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ10  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 160,012,313
GRCh38 1 160,042,523
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002241.4:c.10G>A
NG_016411.1:g.32649G>A
NC_000001.11:g.160042523C>T
NC_000001.10:g.160012313C>T
More...
08/22/2016 missense variant uncertain significance AllHighlyPenetrant; Epilepsy, ataxia, sensorineural deafness and tubulopathy; 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: V to I (nonsynonymous)
Amino Acid Position: 4
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSIAKVYYSQTTQTESRPLMGPGIRRRRVLTKDGRSNVRMEHIADKRFLYLKDLWTTFIDMQWRYKLLLFSATFAGTWF
LFGVVWYLVAVAHGDLLELDPPANHTPCVVQVHTLTGAFLFSLESQTTIGYGFRYISEECPLAIVLLIAQLVLTTILEIF
ITGTFLAKIARPKKRAETIRFSQHAVVASHNGKPCLMIRVANMRKSLLIGCQVTGKLLQTHQTKEGENIRLNQVNVTFQV
DTASDSPFLILPLTFYHVVDETSPLKDLPLRSGEGDFELVLILSGTVESTSATCQVRTSYLPEEILWGYEFTPAISLSAS
GKYIADFSLFDQVVKVASPSGLRDSTVRYGDPEKLKLEESLREQAEKEGSALSVRISNV*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000500028 CLINVAR
  RCV001865609 CLINVAR
  RCV003159628 CLINVAR
dbSNP (RS) rs144428351 CLINVAR
MedGen C0950123 CLINVAR
  C2748572 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNJ10 CLINVAR
OMIM 602208 CLINVAR
  612780 CLINVAR