RGD:12913981 Rat Genome Database

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Variant: RGD:12913981 -  Homo sapiens

RGD ID: 12913981
RS ID: rs1131691676
ClinVar ID: CV421874
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 6,636,794
GRCh38 11 6,615,563
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008653.1:g.8899G>A
NC_000011.10:g.6615563C>T
NC_000011.9:g.6636794C>T
NM_000391.4:c.1146-1G>A
More... 		11/13/2018 splice acceptor variant likely pathogenic Ceroid storage disease; JANSKY-BIELSCHOWSKY DISEASE NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE; none provided; TPP1-Related Neuronal Ceroid-Lipofuscinosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TPP1
Accession:NM_000391
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:31069529  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000494500 CLINVAR
  RCV001829413 CLINVAR
  RCV003403142 CLINVAR
dbSNP (RS) rs1131691676 CLINVAR
MedGen C0027877 CLINVAR
  C1876161 CLINVAR
  C3661900 CLINVAR
NCBI Gene TPP1 CLINVAR
OMIM 204500 CLINVAR
  607998 CLINVAR
SNOMED CT 42012007 CLINVAR