RGD:127249348 Rat Genome Database

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Variant: RGD:127249348 -  Homo sapiens

RGD ID: 127249348
RS ID: rs896128628
ClinVar ID: CV1078538
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130005207  TPP1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 6,640,417
GRCh38 11 6,619,186
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_830t1:c.89+10C>G
NM_000391.4:c.89+10C>G
LRG_830:g.5276C>G
NG_008653.1:g.5276C>G
More... 		06/21/2020 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TPP1
Accession:NM_000391
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001399581 CLINVAR
dbSNP (RS) rs896128628 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LOC130005207 CLINVAR
  TPP1 CLINVAR
OMIM 607998 CLINVAR