RGD:127315724 Rat Genome Database

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Variant: RGD:127315724 -  Homo sapiens

RGD ID: 127315724
RS ID: rs1855609354
ClinVar ID: CV1121749
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 6,639,014
GRCh38 11 6,617,783
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000011.10:g.6617783G>A
NC_000011.9:g.6639014G>A
LRG_830t1:c.230-7C>T
NM_000391.4:c.230-7C>T
More... 		10/29/2020 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 RCV001458046 CLINVAR
dbSNP (RS) rs1855609354 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TPP1 CLINVAR
OMIM 607998 CLINVAR