RGD:11581957 Rat Genome Database

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Variant: RGD:11581957 -  Homo sapiens

RGD ID: 11581957
RS ID: rs56144125
ClinVar ID: CV264631
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPP1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 6,638,385
GRCh38 11 6,617,154
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.7308G>T
NC_000011.10:g.6617154C>A
NC_000011.9:g.6638385C>A
NM_000391.4:c.509-1G>T
More... 		07/23/2019 splice acceptor variant pathogenic|likely pathogenic 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:10330339   PMID:16199547   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000391641 CLINVAR
  RCV000666428 CLINVAR
dbSNP (RS) rs56144125 CLINVAR
MedGen C1876161 CLINVAR
  C3661900 CLINVAR
NCBI Gene TPP1 CLINVAR
OMIM 204500 CLINVAR
  607998 CLINVAR