RGD:150338835 Rat Genome Database

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Variant: RGD:150338835 -  Homo sapiens

RGD ID: 150338835
RS ID: rs2290026
ClinVar ID: CV1167100
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH23  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 73,450,049
GRCh38 10 71,690,292
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001171931.2:c.2060-176C>T
NM_022124.6:c.2060-176C>T
NG_008835.1:g.298346C>T
NC_000010.11:g.71690292C>T
More... 		07/01/2021 intron variant benign Deafness, autosomal recessive 12; none provided; USHER SYNDROME, TYPE ID
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDH23
Accession:NM_052836
Location:INTRON

Gene Symbol:CDH23
Accession:NM_022124
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171930
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171931
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171932
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171933
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171934
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171935
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171936
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001533701 CLINVAR
  RCV001533702 CLINVAR
  RCV001647377 CLINVAR
dbSNP (RS) rs2290026 CLINVAR
MedGen C1832394 CLINVAR
  C1832845 CLINVAR
  C3661900 CLINVAR
NCBI Gene CDH23 CLINVAR
OMIM 601067 CLINVAR
  601386 CLINVAR
  605516 CLINVAR