RGD:15124292 Rat Genome Database

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Variant: RGD:15124292 -  Homo sapiens

RGD ID: 15124292
RS ID: rs1589948696
ClinVar ID: CV760031
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPP1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 6,638,388
GRCh38 11 6,617,157
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.509-4A>G
NG_008653.1:g.7305A>G
NC_000011.10:g.6617157T>C
NC_000011.9:g.6638388T>C
More... 		01/08/2018 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 RCV000918958 CLINVAR
dbSNP (RS) rs1589948696 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TPP1 CLINVAR
OMIM 607998 CLINVAR