RGD:156397785 Rat Genome Database

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Variant: RGD:156397785 -  Homo sapiens

RGD ID: 156397785
ClinVar ID: CV1880777
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 77,566,118
GRCh38 13 76,991,983
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_692t1:c.32C>G
NM_006493.2:c.32C>G
LRG_692:g.5060C>G
NG_009064.1:g.5060C>G
More... 		02/04/2022 missense variant uncertain significance Ceroid storage disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003068825 CLINVAR
MedGen C0027877 CLINVAR
NCBI Gene CLN5 CLINVAR
OMIM 608102 CLINVAR
SNOMED CT 42012007 CLINVAR