RGD:13211750 Rat Genome Database

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Variant: RGD:13211750 -  Homo sapiens

RGD ID: 13211750
RS ID: rs535970426
ClinVar ID: CV425915
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OTOG  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 17,573,626
GRCh38 11 17,552,079
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.17552079A>C
NC_000011.9:g.17573626A>C
NG_033191.2:g.9707A>C
NM_001292063.2:c.292+4A>C
More...
07/25/2017 intron variant uncertain significance AllHighlyPenetrant; Deafness, autosomal recessive 18b; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OTOG
Accession:NM_001277269
Location:INTRON

Gene Symbol:OTOG
Accession:NM_001292063
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000497858 CLINVAR
  RCV000766727 CLINVAR
  RCV002489217 CLINVAR
dbSNP (RS) rs535970426 CLINVAR
MedGen C3554163 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene OTOG CLINVAR
OMIM 604487 CLINVAR
  614945 CLINVAR