RGD:9692812 Rat Genome Database

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Variant: RGD:9692812 -  Homo sapiens

RGD ID: 9692812
RS ID: rs201615354
ClinVar ID: CV177145
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 77,566,088
GRCh38 13 76,991,953
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.5030T>C
NC_000013.11:g.76991953T>C
LRG_692:g.5030T>C
NM_006493.2:c.2T>C
More... 		05/28/2019 missense variant likely benign|conflicting interpretations of pathogenicity|drug response|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:26467025   PMID:26990548   PMID:27533158   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000711260 CLINVAR
  RCV000778400 CLINVAR
  RCV000989146 CLINVAR
  RCV002316962 CLINVAR
  RCV003398802 CLINVAR
dbSNP (RS) rs201615354 CLINVAR
MedGen C0027877 CLINVAR
  C0950123 CLINVAR
  C1850442 CLINVAR
  C3661900 CLINVAR
NCBI Gene CLN5 CLINVAR
OMIM 256731 CLINVAR
  608102 CLINVAR
SNOMED CT 42012007 CLINVAR