RGD:12837646 Rat Genome Database

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Variant: RGD:12837646 -  Homo sapiens

RGD ID: 12837646
RS ID: rs368143492
ClinVar ID: CV374206
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPP1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 6,640,651
GRCh38 11 6,619,420
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.-20C>G
NG_033858.1:g.41430C>G
NG_033858.2:g.41430C>G
NM_000391.3:c.-20C>G
More... 		01/17/2017 5 prime utr variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TPP1
Accession:NM_000391
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000425524 CLINVAR
dbSNP (RS) rs368143492 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TPP1 CLINVAR
OMIM 607998 CLINVAR