RGD:13786641 Rat Genome Database

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Variant: RGD:13786641 -  Homo sapiens

RGD ID: 13786641
RS ID: rs1800738
ClinVar ID: CV549685
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPP1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 6,638,506
GRCh38 11 6,617,275
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.7187T>A
NC_000011.10:g.6617275A>T
NC_000011.9:g.6638506A>T
LRG_830:g.7187T>A
More...
06/14/2018 intron variant benign Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia; 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:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000675463 CLINVAR
  RCV001538072 CLINVAR
  RCV001538073 CLINVAR
dbSNP (RS) rs1800738 CLINVAR
MedGen C1836474 CLINVAR
  C1876161 CLINVAR
  C3661900 CLINVAR
NCBI Gene TPP1 CLINVAR
OMIM 204500 CLINVAR
  607998 CLINVAR
  609270 CLINVAR