RGD:8558356 Rat Genome Database

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Variant: RGD:8558356 -  Homo sapiens

RGD ID: 8558356
RS ID: rs121908347
ClinVar ID: CV19954
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH23  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 73,499,529
GRCh38 10 71,739,772
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_008835.1:g.347826G>C
NC_000010.11:g.71739772G>C
NC_000010.10:g.73499529G>C
NP_071407.4:p.Gln1496His
More... 		08/31/2021 2kb upstream variant|missense|missense variant pathogenic neonatal/infancy 1-9 / 100 000 none provided; Retinitis pigmentosa and congenital deafness; Usher syndrome, type I, French variety; USHER SYNDROME, TYPE ID
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDH23
Accession:NM_022124
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171932
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171934
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171933
Location:INTRON

Gene Symbol:CDH23
Accession:NM_052836
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171930
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171936
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171931
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171935
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:11138009   PMID:17576681   PMID:25741868   PMID:28492532   PMID:30459346   PMID:31231422  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000005197 CLINVAR
  RCV001566890 CLINVAR
  RCV001835621 CLINVAR
  RCV003472971 CLINVAR
dbSNP (RS) rs121908347 CLINVAR
MedGen C1568247 CLINVAR
  C1832845 CLINVAR
  C3661900 CLINVAR
  C4539685 CLINVAR
NCBI Gene CDH23 CLINVAR
OMIM 276900 CLINVAR
  601067 CLINVAR
  605516 CLINVAR
  617540 CLINVAR
OMIM Allele 605516.0001 CLINVAR