RGD:28872366 Rat Genome Database

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Variant: RGD:28872366 -  Homo sapiens

RGD ID: 28872366
RS ID: rs540279409
ClinVar ID: CV870387
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127823537  TPI1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 6,979,935
GRCh38 12 6,870,771
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001258026.2:c.*388C>T
NM_000365.6:c.*388C>T
NG_013308.1:g.7587G>A
NM_000365.5:c.*388C>T
More... 		01/12/2018 3 prime utr variant benign Triose phosphate-isomerase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TPI1
Accession:NM_001258026
Location:3UTRS;EXON

Gene Symbol:TPI1
Accession:NM_000365
Location:3UTRS;EXON

Gene Symbol:TPI1
Accession:NM_001159287
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001114511 CLINVAR
dbSNP (RS) rs540279409 CLINVAR
MedGen C1860808 CLINVAR
NCBI Gene TPI1 CLINVAR
OMIM 190450 CLINVAR
  615512 CLINVAR