RGD:10397085 Rat Genome Database

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Variant: RGD:10397085 -  Homo sapiens

RGD ID: 10397085
RS ID: rs748345018
ClinVar ID: CV202558
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 6,636,105
GRCh38 11 6,614,874
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.9588C>T
NC_000011.10:g.6614874G>A
NC_000011.9:g.6636105G>A
NP_000382.3:p.Leu515Phe
More... 		10/23/2020 missense variant conflicting interpretations of pathogenicity|uncertain significance 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:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 515
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLQACLLGLFALILSGKCSYSPEPDQRRTLPPGWVSLGRADPEEELSLTFALRQQNVERLSELVQAVSDPSSPQYGKYL
TLENVADLVRPSPLTLHTVQKWLLAAGAQKCHSVITQDFLTCWLSIRQAELLLPGAEFHHYVGGPTETHVVRSPHPYQLP
QALAPHVDFVGGLHRFPPTSSLRQRPEPQVTGTVGLHLGVTPSVIRKRYNLTSQDVGSGTSNNSQACAQFLEQYFHDSDL
AQFMRLFGGNFAHQASVARVVGQQGRGRAGIEASLDVQYLMSAGANISTWVYSSPGRHEGQEPFLQWLMLLSNESALPHV
HTVSYGDDEDSLSSAYIQRVNTELMKAAARGLTLLFASGDSGAGCWSVSGRHQFRPTFPASSPYVTTVGGTSFQEPFLIT
NEIVDYISGGGFSNVFPRPSYQEEAVTKFLSSSPHLPPSSYFNASGRAYPDVAALSDGYWVVSNRVPIPWVSGTSASTPV
FGGILSLINEHRILSGRPPLGFLNPRLYQQHGAGFFDVTRGCHESCLDEEVEGQGFCSGPGWDPVTGWGTPNFPALLKTL
LNP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000189794 CLINVAR
  RCV001274536 CLINVAR
  RCV002399705 CLINVAR
dbSNP (RS) rs748345018 CLINVAR
MedGen C0950123 CLINVAR
  C1876161 CLINVAR
  C3661900 CLINVAR
NCBI Gene TPP1 CLINVAR
OMIM 204500 CLINVAR
  607998 CLINVAR