RGD:13786587 Rat Genome Database

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Variant: RGD:13786587 -  Homo sapiens

RGD ID: 13786587
RS ID: rs1554901895
ClinVar ID: CV546574
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 6,638,047
GRCh38 11 6,616,816
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.7646T>C
NC_000011.10:g.6616816A>G
NC_000011.9:g.6638047A>G
NP_000382.3:p.Met244Thr
More... 		03/01/2018 missense 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:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 244
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLQACLLGLFALILSGKCSYSPEPDQRRTLPPGWVSLGRADPEEELSLTFALRQQNVERLSELVQAVSDPSSPQYGKYL
TLENVADLVRPSPLTLHTVQKWLLAAGAQKCHSVITQDFLTCWLSIRQAELLLPGAEFHHYVGGPTETHVVRSPHPYQLP
QALAPHVDFVGGLHRFPPTSSLRQRPEPQVTGTVGLHLGVTPSVIRKRYNLTSQDVGSGTSNNSQACAQFLEQYFHDSDL
AQFTRLFGGNFAHQASVARVVGQQGRGRAGIEASLDVQYLMSAGANISTWVYSSPGRHEGQEPFLQWLMLLSNESALPHV
HTVSYGDDEDSLSSAYIQRVNTELMKAAARGLTLLFASGDSGAGCWSVSGRHQFRPTFPASSPYVTTVGGTSFQEPFLIT
NEIVDYISGGGFSNVFPRPSYQEEAVTKFLSSSPHLPPSSYFNASGRAYPDVAALSDGYWVVSNRVPIPWVSGTSASTPV
FGGILSLINEHRILSGRPPLGFLNPRLYQQHGAGLFDVTRGCHESCLDEEVEGQGFCSGPGWDPVTGWGTPNFPALLKTL
LNP*
Variant Samples
Additional References at PubMed
PMID:24091540  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000672940 CLINVAR
dbSNP (RS) rs1554901895 CLINVAR
MedGen C1876161 CLINVAR
NCBI Gene TPP1 CLINVAR
OMIM 204500 CLINVAR
  607998 CLINVAR