RGD:10396181 Rat Genome Database

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Variant: RGD:10396181 -  Homo sapiens

RGD ID: 10396181
RS ID: rs146426296
ClinVar ID: CV201052
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ10  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 160,011,588
GRCh38 1 160,041,798
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.33374C>G
NC_000001.11:g.160041798G>C
NC_000001.10:g.160011588G>C
NP_002232.2:p.Asp245Glu
More... 		12/31/2019 missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance infancy 1-9 / 100 000|<1 / 1 000 000 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: D to E (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSVAKVYYSQTTQTESRPLMGPGIRRRRVLTKDGRSNVRMEHIADKRFLYLKDLWTTFIDMQWRYKLLLFSATFAGTWF
LFGVVWYLVAVAHGDLLELDPPANHTPCVVQVHTLTGAFLFSLESQTTIGYGFRYISEECPLAIVLLIAQLVLTTILEIF
ITGTFLAKIARPKKRAETIRFSQHAVVASHNGKPCLMIRVANMRKSLLIGCQVTGKLLQTHQTKEGENIRLNQVNVTFQV
DTASESPFLILPLTFYHVVDETSPLKDLPLRSGEGDFELVLILSGTVESTSATCQVRTSYLPEEILWGYEFTPAISLSAS
GKYIADFSLFDQVVKVASPSGLRDSTVRYGDPEKLKLEESLREQAEKEGSALSVRISNV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000187803 CLINVAR
  RCV000281707 CLINVAR
  RCV000727390 CLINVAR
  RCV001085271 CLINVAR
  RCV002381629 CLINVAR
  RCV003967476 CLINVAR
dbSNP (RS) rs146426296 CLINVAR
MedGen C0950123 CLINVAR
  C2748572 CLINVAR
  C3538946 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNJ10 CLINVAR
OMIM 600791 CLINVAR
  602208 CLINVAR
  612780 CLINVAR