RGD:10397636 Rat Genome Database

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Variant: RGD:10397636 -  Homo sapiens

RGD ID: 10397636
RS ID: rs796052607
ClinVar ID: CV201056
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ10  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 160,011,896
GRCh38 1 160,042,106
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.33066G>A
NC_000001.11:g.160042106C>T
NC_000001.10:g.160011896C>T
NP_002232.2:p.Ala143Thr
More... 		02/04/2019 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: A to T (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSVAKVYYSQTTQTESRPLMGPGIRRRRVLTKDGRSNVRMEHIADKRFLYLKDLWTTFIDMQWRYKLLLFSATFAGTWF
LFGVVWYLVAVAHGDLLELDPPANHTPCVVQVHTLTGAFLFSLESQTTIGYGFRYISEECPLTIVLLIAQLVLTTILEIF
ITGTFLAKIARPKKRAETIRFSQHAVVASHNGKPCLMIRVANMRKSLLIGCQVTGKLLQTHQTKEGENIRLNQVNVTFQV
DTASDSPFLILPLTFYHVVDETSPLKDLPLRSGEGDFELVLILSGTVESTSATCQVRTSYLPEEILWGYEFTPAISLSAS
GKYIADFSLFDQVVKVASPSGLRDSTVRYGDPEKLKLEESLREQAEKEGSALSVRISNV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000187816 CLINVAR
  RCV002503743 CLINVAR
dbSNP (RS) rs796052607 CLINVAR
MedGen C3538946 CLINVAR
  CN517202 CLINVAR
NCBI Gene KCNJ10 CLINVAR
OMIM 274600 CLINVAR
  600791 CLINVAR
  602208 CLINVAR
  612780 CLINVAR
SNOMED CT 70348004 CLINVAR