RGD:14726276 Rat Genome Database

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Variant: RGD:14726276 -  Homo sapiens

RGD ID: 14726276
RS ID: rs112765517
ClinVar ID: CV665968
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 6,638,501
GRCh38 11 6,617,270
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.508+31G>A
NG_008653.1:g.7192G>A
NC_000011.10:g.6617270C>T
NC_000011.9:g.6638501C>T
More...
06/14/2018 intron variant benign none provided

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000833799 CLINVAR
dbSNP (RS) rs112765517 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TPP1 CLINVAR
OMIM 607998 CLINVAR