RGD:40816418 Rat Genome Database

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Variant: RGD:40816418 -  Homo sapiens

RGD ID: 40816418
RS ID: rs1294149176
ClinVar ID: CV967272
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OTOG  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 17,579,862
GRCh38 11 17,558,315
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001277269.1:c.1032G>T
NG_033191.2:g.15943G>T
NC_000011.10:g.17558315G>T
NC_000011.9:g.17579862G>T
More... 		07/08/2020 missense variant uncertain significance Deafness, autosomal recessive 18b
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:OTOG
Accession:NM_001277269
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001258337 CLINVAR
dbSNP (RS) rs1294149176 CLINVAR
MedGen C3554163 CLINVAR
NCBI Gene OTOG CLINVAR
OMIM 604487 CLINVAR
  614945 CLINVAR