RGD:11640240 Rat Genome Database

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Variant: RGD:11640240 -  Homo sapiens

RGD ID: 11640240
RS ID: rs750227861
ClinVar ID: CV267748
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ10  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 160,012,302
GRCh38 1 160,042,512
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.32660G>T
NC_000001.11:g.160042512C>A
NC_000001.10:g.160012302C>A
NP_002232.2:p.Val7=
More... 		09/04/2023 synonymous variant likely benign|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: V to V (synonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSVAKVYYSQTTQTESRPLMGPGIRRRRVLTKDGRSNVRMEHIADKRFLYLKDLWTTFIDMQWRYKLLLFSATFAGTWF
LFGVVWYLVAVAHGDLLELDPPANHTPCVVQVHTLTGAFLFSLESQTTIGYGFRYISEECPLAIVLLIAQLVLTTILEIF
ITGTFLAKIARPKKRAETIRFSQHAVVASHNGKPCLMIRVANMRKSLLIGCQVTGKLLQTHQTKEGENIRLNQVNVTFQV
DTASDSPFLILPLTFYHVVDETSPLKDLPLRSGEGDFELVLILSGTVESTSATCQVRTSYLPEEILWGYEFTPAISLSAS
GKYIADFSLFDQVVKVASPSGLRDSTVRYGDPEKLKLEESLREQAEKEGSALSVRISNV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000334234 CLINVAR
  RCV003507272 CLINVAR
dbSNP (RS) rs750227861 CLINVAR
MedGen C2748572 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNJ10 CLINVAR
OMIM 602208 CLINVAR
  612780 CLINVAR