RGD:8604635 Rat Genome Database

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Variant: RGD:8604635 -  Homo sapiens

RGD ID: 8604635
RS ID: rs397514673
ClinVar ID: CV49907
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ10  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 160,011,799
GRCh38 1 160,042,009
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.33163G>A
NC_000001.11:g.160042009C>T
NC_000001.10:g.160011799C>T
NP_002232.2:p.Arg175Gln
More... 		07/16/2019 missense|missense variant pathogenic|likely pathogenic|uncertain significance neonatal/infancy <1 / 1 000 000 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: R to Q (nonsynonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSVAKVYYSQTTQTESRPLMGPGIRRRRVLTKDGRSNVRMEHIADKRFLYLKDLWTTFIDMQWRYKLLLFSATFAGTWF
LFGVVWYLVAVAHGDLLELDPPANHTPCVVQVHTLTGAFLFSLESQTTIGYGFRYISEECPLAIVLLIAQLVLTTILEIF
ITGTFLAKIARPKKQAETIRFSQHAVVASHNGKPCLMIRVANMRKSLLIGCQVTGKLLQTHQTKEGENIRLNQVNVTFQV
DTASDSPFLILPLTFYHVVDETSPLKDLPLRSGEGDFELVLILSGTVESTSATCQVRTSYLPEEILWGYEFTPAISLSAS
GKYIADFSLFDQVVKVASPSGLRDSTVRYGDPEKLKLEESLREQAEKEGSALSVRISNV*
Variant Samples
Additional References at PubMed
PMID:20651251   PMID:21221631   PMID:24193250   PMID:24480364   PMID:25741868   PMID:27500072   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000034356 CLINVAR
  RCV001818209 CLINVAR
  RCV002336110 CLINVAR
dbSNP (RS) rs397514673 CLINVAR
MedGen C0950123 CLINVAR
  C2748572 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNJ10 CLINVAR
OMIM 602208 CLINVAR
  612780 CLINVAR
OMIM Allele 602208.0013 CLINVAR