RGD:38497605 Rat Genome Database

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Variant: RGD:38497605 -  Homo sapiens

RGD ID: 38497605
RS ID: rs1239937973
ClinVar ID: CV947587
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 6,636,711
GRCh38 11 6,615,480
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.1228G>A
NG_008653.1:g.8982G>A
NC_000011.10:g.6615480C>T
NC_000011.9:g.6636711C>T
More... 		11/08/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TPP1
Accession:NM_000391
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 410
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLQACLLGLFALILSGKCSYSPEPDQRRTLPPGWVSLGRADPEEELSLTFALRQQNVERLSELVQAVSDPSSPQYGKYL
TLENVADLVRPSPLTLHTVQKWLLAAGAQKCHSVITQDFLTCWLSIRQAELLLPGAEFHHYVGGPTETHVVRSPHPYQLP
QALAPHVDFVGGLHRFPPTSSLRQRPEPQVTGTVGLHLGVTPSVIRKRYNLTSQDVGSGTSNNSQACAQFLEQYFHDSDL
AQFMRLFGGNFAHQASVARVVGQQGRGRAGIEASLDVQYLMSAGANISTWVYSSPGRHEGQEPFLQWLMLLSNESALPHV
HTVSYGDDEDSLSSAYIQRVNTELMKAAARGLTLLFASGDSGAGCWSVSGRHQFRPTFPASSPYVTTVGGTSFQEPFLIT
NEIVDYISGSGFSNVFPRPSYQEEAVTKFLSSSPHLPPSSYFNASGRAYPDVAALSDGYWVVSNRVPIPWVSGTSASTPV
FGGILSLINEHRILSGRPPLGFLNPRLYQQHGAGLFDVTRGCHESCLDEEVEGQGFCSGPGWDPVTGWGTPNFPALLKTL
LNP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001227190 CLINVAR
dbSNP (RS) rs1239937973 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TPP1 CLINVAR
OMIM 607998 CLINVAR