RGD:8659799 Rat Genome Database

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Variant: RGD:8659799 -  Homo sapiens

RGD ID: 8659799
RS ID: rs3795339
ClinVar ID: CV134764
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ10  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 160,011,511
GRCh38 1 160,041,721
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.33451G>A
NC_000001.11:g.160041721C>T
NC_000001.10:g.160011511C>T
NP_002232.2:p.Arg271His
More... 		12/03/2020 missense|missense variant benign|likely benign|uncertain significance AllHighlyPenetrant; Deafness, autosomal recessive 4; Deafness, autosomal recessive 4, with enlarged vestibular aqueduct; DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC; Enlarged vestibular aqueduct, digenic; Epilepsy, ataxia, sensorineural deafness and tubulopathy; FOXI1-Related Pendred Syndrome; KCNJ10-Related Pendred Syndrome; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; none provided; Nonsyndromic enlarged vestibular aqueduct (NSEVA); 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 H (nonsynonymous)
Amino Acid Position: 271
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSVAKVYYSQTTQTESRPLMGPGIRRRRVLTKDGRSNVRMEHIADKRFLYLKDLWTTFIDMQWRYKLLLFSATFAGTWF
LFGVVWYLVAVAHGDLLELDPPANHTPCVVQVHTLTGAFLFSLESQTTIGYGFRYISEECPLAIVLLIAQLVLTTILEIF
ITGTFLAKIARPKKRAETIRFSQHAVVASHNGKPCLMIRVANMRKSLLIGCQVTGKLLQTHQTKEGENIRLNQVNVTFQV
DTASDSPFLILPLTFYHVVDETSPLKDLPLHSGEGDFELVLILSGTVESTSATCQVRTSYLPEEILWGYEFTPAISLSAS
GKYIADFSLFDQVVKVASPSGLRDSTVRYGDPEKLKLEESLREQAEKEGSALSVRISNV*
Variant Samples
Additional References at PubMed
PMID:23918157   PMID:24860705   PMID:25372295   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000117321 CLINVAR
  RCV000548825 CLINVAR
  RCV001099392 CLINVAR
  RCV001704023 CLINVAR
  RCV002313893 CLINVAR
dbSNP (RS) rs3795339 CLINVAR
MedGen C0950123 CLINVAR
  C2748572 CLINVAR
  C3538946 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNJ10 CLINVAR
OMIM 600791 CLINVAR
  602208 CLINVAR
  612780 CLINVAR