RGD:151858564 Rat Genome Database

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Variant: RGD:151858564 -  Homo sapiens

RGD ID: 151858564
RS ID: rs1336864663
ClinVar ID: CV1398318
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 77,566,096
GRCh38 13 76,991,961
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_692:g.5038A>T
NG_009064.1:g.5038A>T
NC_000013.11:g.76991961A>T
NC_000013.10:g.77566096A>T
More... 		07/31/2021 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 RCV002017476 CLINVAR
  RCV003269072 CLINVAR
dbSNP (RS) rs1336864663 CLINVAR
MedGen C0027877 CLINVAR
  C0950123 CLINVAR
NCBI Gene CLN5 CLINVAR
OMIM 608102 CLINVAR
SNOMED CT 42012007 CLINVAR