RGD:11603113 Rat Genome Database

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Variant: RGD:11603113 -  Homo sapiens

RGD ID: 11603113
RS ID: rs139742443
ClinVar ID: CV321998
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH23  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 73,156,823
GRCh38 10 71,397,066
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_022124.5:c.-258G>A
NG_008835.1:g.5120G>A
NC_000010.11:g.71397066G>A
NC_000010.10:g.73156823G>A
More... 		05/12/2021 5 prime utr variant benign|likely benign|uncertain significance 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_001171930
Location:5UTRS;EXON

Gene Symbol:CDH23
Accession:NM_022124
Location:5UTRS;EXON

Gene Symbol:CDH23
Accession:NM_001171931
Location:5UTRS;EXON

Gene Symbol:CDH23
Accession:NM_052836
Location:5UTRS;EXON

Gene Symbol:CDH23
Accession:NM_001171932
Location:5UTRS;EXON

Gene Symbol:CDH23
Accession:NM_001171934
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171933
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171936
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171935
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000296677 CLINVAR
  RCV000335424 CLINVAR
  RCV001711900 CLINVAR
dbSNP (RS) rs139742443 CLINVAR
MedGen C1832394 CLINVAR
  C1832845 CLINVAR
  C3661900 CLINVAR
NCBI Gene CDH23 CLINVAR
OMIM 601067 CLINVAR
  601386 CLINVAR
  605516 CLINVAR