RGD:10396184 Rat Genome Database

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Variant: RGD:10396184 -  Homo sapiens

RGD ID: 10396184
RS ID: rs140646329
ClinVar ID: CV201058
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ10  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 160,012,073
GRCh38 1 160,042,283
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.32889G>A
NC_000001.11:g.160042283C>T
NC_000001.10:g.160012073C>T
NP_002232.2:p.Val84Met
More... 		08/16/2018 missense variant uncertain significance 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: V to M (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSVAKVYYSQTTQTESRPLMGPGIRRRRVLTKDGRSNVRMEHIADKRFLYLKDLWTTFIDMQWRYKLLLFSATFAGTWF
LFGMVWYLVAVAHGDLLELDPPANHTPCVVQVHTLTGAFLFSLESQTTIGYGFRYISEECPLAIVLLIAQLVLTTILEIF
ITGTFLAKIARPKKRAETIRFSQHAVVASHNGKPCLMIRVANMRKSLLIGCQVTGKLLQTHQTKEGENIRLNQVNVTFQV
DTASDSPFLILPLTFYHVVDETSPLKDLPLRSGEGDFELVLILSGTVESTSATCQVRTSYLPEEILWGYEFTPAISLSAS
GKYIADFSLFDQVVKVASPSGLRDSTVRYGDPEKLKLEESLREQAEKEGSALSVRISNV*
Variant Samples
Additional References at PubMed
PMID:21458570   PMID:25741868   PMID:27677466   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000187807 CLINVAR
  RCV000807727 CLINVAR
  RCV002503741 CLINVAR
  RCV002514016 CLINVAR
dbSNP (RS) rs140646329 CLINVAR
MedGen C0950123 CLINVAR
  C2748572 CLINVAR
  C3538946 CLINVAR
  CN517202 CLINVAR
NCBI Gene KCNJ10 CLINVAR
OMIM 274600 CLINVAR
  600791 CLINVAR
  602208 CLINVAR
  612780 CLINVAR
SNOMED CT 70348004 CLINVAR