RGD:11089806 Rat Genome Database

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Variant: RGD:11089806 -  Homo sapiens

RGD ID: 11089806
RS ID: rs12792504
ClinVar ID: CV230097
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OTOG  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 17,615,586
GRCh38 11 17,594,039
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.17594039C>G
NC_000011.9:g.17615586C>G
NM_001292063.2:c.3289-8C>G
NM_001277269.2:c.3325-8C>G
More... 		02/27/2019 intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:OTOG
Accession:NM_001292063
Location:INTRON

Gene Symbol:OTOG
Accession:NM_001277269
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000215269 CLINVAR
  RCV000959169 CLINVAR
dbSNP (RS) rs12792504 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene OTOG CLINVAR
OMIM 604487 CLINVAR