RGD:14689629 Rat Genome Database

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Variant: RGD:14689629 -  Homo sapiens

RGD ID: 14689629
RS ID: rs1564791773
ClinVar ID: CV615839
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH23  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 73,544,043
GRCh38 10 71,784,286
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000010.10:g.73544043G>T
NG_008835.1:g.392340G>T
NC_000010.11:g.71784286G>T
NM_022124.6:c.5369-1G>T
 02/26/2019 splice acceptor variant pathogenic Deafness, autosomal recessive 12
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_001171932
Location:INTRON

Gene Symbol:CDH23
Accession:NM_022124
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171931
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171933
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171936
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171934
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171930
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171935
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000770811 CLINVAR
dbSNP (RS) rs1564791773 CLINVAR
MedGen C1832394 CLINVAR
NCBI Gene CDH23 CLINVAR
OMIM 601386 CLINVAR
  605516 CLINVAR