RGD:11588638 Rat Genome Database

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Variant: RGD:11588638 -  Homo sapiens

RGD ID: 11588638
RS ID: rs116418256
ClinVar ID: CV277772
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ10  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 160,008,587
GRCh38 1 160,038,797
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.36375A>G
NC_000001.11:g.160038797T>C
NC_000001.10:g.160008587T>C
NM_002241.5:c.*2596A>G
More... 		01/13/2018 3 prime utr variant likely benign|uncertain significance infancy 1-9 / 100 000 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:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000304369 CLINVAR
  RCV000359101 CLINVAR
  RCV002510836 CLINVAR
dbSNP (RS) rs116418256 CLINVAR
MedGen C2748572 CLINVAR
  C3538946 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNJ10 CLINVAR
OMIM 600791 CLINVAR
  602208 CLINVAR
  612780 CLINVAR