RGD:10395759 Rat Genome Database

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Variant: RGD:10395759 -  Homo sapiens

RGD ID: 10395759
RS ID: rs202118652
ClinVar ID: CV202767
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 77,566,135
GRCh38 13 76,992,000
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.5077G>C
NC_000013.11:g.76992000G>C
LRG_692t1:c.49G>C
LRG_692:g.5077G>C
More... 		12/31/2019 missense variant|upstream transcript variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; 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:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000187046 CLINVAR
  RCV000405110 CLINVAR
  RCV000514392 CLINVAR
  RCV001083336 CLINVAR
  RCV001111453 CLINVAR
  RCV002314700 CLINVAR
dbSNP (RS) rs202118652 CLINVAR
MedGen C0027877 CLINVAR
  C0950123 CLINVAR
  C1850442 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN239251 CLINVAR
NCBI Gene CLN5 CLINVAR
OMIM 256731 CLINVAR
  608102 CLINVAR
SNOMED CT 42012007 CLINVAR