RGD:38464425 Rat Genome Database

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Variant: RGD:38464425 -  Homo sapiens

RGD ID: 38464425
RS ID: rs773979248
ClinVar ID: CV948419
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 77,566,138
GRCh38 13 76,992,003
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_692t1:c.52C>G
LRG_692:g.5080C>G
NG_009064.1:g.5080C>G
NC_000013.11:g.76992003C>G
More...
09/16/2019 upstream transcript variant uncertain significance Ceroid storage disease; none provided
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 RCV001236360 CLINVAR
  RCV001773535 CLINVAR
dbSNP (RS) rs773979248 CLINVAR
MedGen C0027877 CLINVAR
  CN517202 CLINVAR
NCBI Gene CLN5 CLINVAR
OMIM 608102 CLINVAR
SNOMED CT 42012007 CLINVAR