RGD:28908665 Rat Genome Database

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Variant: RGD:28908665 -  Homo sapiens

RGD ID: 28908665
RS ID: rs374146578
ClinVar ID: CV868316
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 6,634,237
GRCh38 11 6,613,006
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000391.4:c.*1540T>C
NG_008653.1:g.11456T>C
NC_000011.10:g.6613006A>G
NC_000011.9:g.6634237A>G
More... 		01/13/2018 3 prime utr variant uncertain significance JANSKY-BIELSCHOWSKY DISEASE NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE; TPP1-Related Neuronal Ceroid-Lipofuscinosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TPP1
Accession:NM_000391
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001107956 CLINVAR
dbSNP (RS) rs374146578 CLINVAR
MedGen C1876161 CLINVAR
NCBI Gene TPP1 CLINVAR
OMIM 204500 CLINVAR
  607998 CLINVAR