RGD:402524200 Rat Genome Database

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Variant: RGD:402524200 -  Homo sapiens

RGD ID: 402524200
ClinVar ID: CV3079994
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ROGDI  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 4,850,486
GRCh38 16 4,800,485
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.336+13C>G
LRG_455:g.7466C>G
NG_032174.1:g.7466C>G
NC_000016.10:g.4800485G>C
More... 		12/30/2023 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:NM_024589
Location:INTRON

Gene Symbol:ROGDI
Accession:XM_006720947
Location:INTRON

Gene Symbol:ROGDI
Accession:XM_047434636
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 RCV003647189 CLINVAR
MedGen C0406740 CLINVAR
NCBI Gene ROGDI CLINVAR
OMIM 226750 CLINVAR
  614574 CLINVAR
SNOMED CT 109478007 CLINVAR