RGD:11665672 Rat Genome Database

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Variant: RGD:11665672 -  Homo sapiens

RGD ID: 11665672
RS ID: rs2290022
ClinVar ID: CV322726
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDH23  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 73,575,239
GRCh38 10 71,815,482
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_009301.1:g.40844T>C
NG_008835.1:g.423536A>G
NC_000010.11:g.71815482A>G
NC_000010.10:g.73575239A>G
More... 		07/09/2018 3 prime utr variant benign|likely benign adolescent|infancy 1-9 / 1 000 000|1-9 / 100 000|<1 / 1 000 000 Arylsulfatase A Deficiency; Cerebral sclerosis diffuse metachromatic form; Cerebroside sulfatase deficiency; COMBINED SAP DEFICIENCY; Combined saposin deficiency; Deafness, autosomal recessive 12; Dystrophia retinae pigmentosa-dysostosis syndrome; Encephalopathy due to prosaposin deficiency; Galactocerebrosidase deficiency; Globoid cell leukoencephalopathy; Graefe-Usher syndrome; Hallgren syndrome; Krabbe leukodystrophy; Leukodystrophy, Globoid Cell; Metachromatic leukoencephalopathy; none provided; PROSAPOSIN DEFICIENCY; RETINITIS PIGMENTOSA 21; Retinitis pigmentosa 21, formerly; RETINITIS PIGMENTOSA 8; Retinitis pigmentosa 8, formerly; RP21, formerly; RP8, formerly; Sulfatide lipidosis; USHER SYNDROME, TYPE ID

Variant Details
Variant Transcripts
Gene Symbol:CDH23
Accession:NM_022124
Location:3UTRS;EXON

Gene Symbol:CDH23
Accession:NM_001171934
Location:3UTRS;EXON

Gene Symbol:CDH23
Accession:NM_001171936
Location:3UTRS;EXON

Gene Symbol:CDH23
Accession:NM_001171935
Location:3UTRS;EXON

Gene Symbol:CDH23
Accession:NM_001171933
Location:3UTRS;EXON

Gene Symbol:CDH23
Accession:NM_001171930
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171932
Location:INTRON

Gene Symbol:CDH23
Accession:NM_052836
Location:INTRON

Gene Symbol:CDH23
Accession:NM_001171931
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000286621 CLINVAR
  RCV000298356 CLINVAR
  RCV000299894 CLINVAR
  RCV000338493 CLINVAR
  RCV000341473 CLINVAR
  RCV000390678 CLINVAR
  RCV001108606 CLINVAR
  RCV001108607 CLINVAR
  RCV001672430 CLINVAR
dbSNP (RS) rs2290022 CLINVAR
MedGen C0023521 CLINVAR
  C0023522 CLINVAR
  C1832394 CLINVAR
  C1832845 CLINVAR
  C2673635 CLINVAR
  C3661900 CLINVAR
  C5779620 CLINVAR
  CN239218 CLINVAR
  CN239439 CLINVAR
NCBI Gene CDH23 CLINVAR
  PSAP CLINVAR
OMIM 176801 CLINVAR
  245200 CLINVAR
  250100 CLINVAR
  500004 CLINVAR
  601067 CLINVAR
  601386 CLINVAR
  605516 CLINVAR
  611721 CLINVAR
SNOMED CT 192782005 CLINVAR
  396338004 CLINVAR
  57838006 CLINVAR