RGD:15121150 Rat Genome Database

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Variant: RGD:15121150 -  Homo sapiens

RGD ID: 15121150
RS ID: rs1394907212
ClinVar ID: CV776181
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127883006  ROGDI  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 4,852,376
GRCh38 16 4,802,375
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024589.3:c.117+7A>G
NG_032174.1:g.5576A>G
NC_000016.10:g.4802375T>C
NC_000016.9:g.4852376T>C
More... 		07/11/2018 intron variant likely benign Epilepsy and yellow teeth; Epilepsy dementia amelogenesis imperfecta; EPILEPSY, DEMENTIA, AND AMELOGENESIS IMPERFECTA; Kohlschutter syndrome; Kohlschutter Tonz syndrome; Kohlschutter's syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ROGDI
Accession:XM_047434636
Location:5UTRS;INTRON

Gene Symbol:ROGDI
Accession:NM_024589
Location:INTRON

Gene Symbol:ROGDI
Accession:XM_006720947
Location:INTRON

Gene Symbol:ROGDI
Accession:NR_046480
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001452527 CLINVAR
dbSNP (RS) rs1394907212 CLINVAR
MedGen C0406740 CLINVAR
NCBI Gene ROGDI CLINVAR
OMIM 226750 CLINVAR
  614574 CLINVAR
SNOMED CT 109478007 CLINVAR