RGD:10395770 Rat Genome Database

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Variant: RGD:10395770 -  Homo sapiens

RGD ID: 10395770
RS ID: rs773979248
ClinVar ID: CV202768
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: C
Variant Nucleotide: A
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
NG_009064.1:g.5080C>A
NC_000013.11:g.76992003C>A
NC_000013.10:g.77566138C>A
LRG_692t1:c.52C>A
More... 		11/28/2021 missense variant uncertain significance CEROID LIPOFUSCINOSIS, NEURONAL, 5, VARIABLE AGE AT ONSET; Ceroid storage disease; CLN5-Related Neuronal Ceroid-Lipofuscinosis; Neuronal ceroid lipofuscinosis Finnish variant; NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000187060 CLINVAR
  RCV000686964 CLINVAR
  RCV001785511 CLINVAR
  RCV002516985 CLINVAR
dbSNP (RS) rs773979248 CLINVAR
MedGen C0027877 CLINVAR
  C0950123 CLINVAR
  C1850442 CLINVAR
  C3661900 CLINVAR
NCBI Gene CLN5 CLINVAR
OMIM 256731 CLINVAR
  608102 CLINVAR
SNOMED CT 42012007 CLINVAR