RGD:26899449 Rat Genome Database

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Variant: RGD:26899449 -  Homo sapiens

RGD ID: 26899449
RS ID: rs767480061
ClinVar ID: CV841007
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 77,566,140
GRCh38 13 76,992,005
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_692t1:c.54A>T
NM_006493.2:c.54A>T
NC_000013.10:g.77566140A>T
LRG_692:g.5082A>T
More... 		09/16/2020 upstream transcript 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
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 RCV001036174 CLINVAR
  RCV001272137 CLINVAR
dbSNP (RS) rs767480061 CLINVAR
MedGen C0027877 CLINVAR
  C1850442 CLINVAR
NCBI Gene CLN5 CLINVAR
OMIM 256731 CLINVAR
  608102 CLINVAR
SNOMED CT 42012007 CLINVAR