RGD:8597524 Rat Genome Database

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Variant: RGD:8597524 -  Homo sapiens

RGD ID: 8597524
RS ID: rs137853067
ClinVar ID: CV22502
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ10  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 160,011,728
GRCh38 1 160,041,938
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.33234C>T
NC_000001.11:g.160041938G>A
NC_000001.10:g.160011728G>A
NP_002232.2:p.Arg199Ter
More... 		01/25/2023 nonsense|stop-gain pathogenic|likely pathogenic neonatal/infancy <1 / 1 000 000 DEAFNESS WITH GOITER; Deafness, autosomal recessive 4; Deafness, autosomal recessive 4, with enlarged vestibular aqueduct; DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC; EAST syndrome; Enlarged vestibular aqueduct, digenic; Epilepsy, ataxia, sensorineural deafness and tubulopathy; FOXI1-Related Pendred Syndrome; Goiter-deafness syndrome; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B; KCNJ10-Related Pendred Syndrome; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; none provided; Nonsyndromic enlarged vestibular aqueduct (NSEVA); Pendred syndrome; Pendred's syndrome; SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ELECTROLYTE IMBALANCE; Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; SeSAME syndrome; THYROID DYSHORMONOGENESIS 2B; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B
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 * (nonsynonymous)
Amino Acid Position: 199
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSVAKVYYSQTTQTESRPLMGPGIRRRRVLTKDGRSNVRMEHIADKRFLYLKDLWTTFIDMQWRYKLLLFSATFAGTWF
LFGVVWYLVAVAHGDLLELDPPANHTPCVVQVHTLTGAFLFSLESQTTIGYGFRYISEECPLAIVLLIAQLVLTTILEIF
ITGTFLAKIARPKKRAETIRFSQHAVVASHNGKPCLMI*VANMRKSLLIGCQVTGKLLQTHQTKEGENIRLNQVNVTFQV
DTASDSPFLILPLTFYHVVDETSPLKDLPLRSGEGDFELVLILSGTVESTSATCQVRTSYLPEEILWGYEFTPAISLSAS
GKYIADFSLFDQVVKVASPSGLRDSTVRYGDPEKLKLEESLREQAEKEGSALSVRISNV*
Variant Samples
Additional References at PubMed
PMID:19289823   PMID:20651251   PMID:20678478   PMID:20807765   PMID:21088294   PMID:23924083   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000007889 CLINVAR
  RCV002496303 CLINVAR
  RCV003128569 CLINVAR
dbSNP (RS) rs137853067 CLINVAR
MedGen C2748572 CLINVAR
  C3538946 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNJ10 CLINVAR
OMIM 274600 CLINVAR
  600791 CLINVAR
  602208 CLINVAR
  612780 CLINVAR
OMIM Allele 602208.0002 CLINVAR
SNOMED CT 70348004 CLINVAR