RGD:11663065 Rat Genome Database

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Variant: RGD:11663065 -  Homo sapiens

RGD ID: 11663065
RS ID: rs886057637
ClinVar ID: CV348177
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130067866  TYMP  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 50,968,472
GRCh38 22 50,530,043
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000022.11:g.50530043G>C
NM_001257989.1:c.-150C>G
NG_016235.1:g.1397C>G
NM_001113755.2:c.-162C>G
More... 		06/14/2016 5 prime utr variant uncertain significance adolescent 1-9 / 1 000 000 Mitochondrial DNA depletion syndrome 1 (MNGIE type); Mitochondrial DNA Depletion Syndrome, MNGIE Form; Mitochondrial neurogastrointestinal encephalomyopathy syndrome; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED; MNGIE, TYMP-RELATED; POLIP SYNDROME; POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TYMP
Accession:NM_001257989
Location:5UTRS;EXON

Gene Symbol:TYMP
Accession:NM_001257988
Location:5UTRS;EXON

Gene Symbol:TYMP
Accession:NM_001113755
Location:INTRON

Gene Symbol:TYMP
Accession:NM_001113756
Location:INTRON

Gene Symbol:TYMP
Accession:NM_001953
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000392133 CLINVAR
dbSNP (RS) rs886057637 CLINVAR
MedGen C4551995 CLINVAR
NCBI Gene LOC130067866 CLINVAR
  TYMP CLINVAR
OMIM 131222 CLINVAR
  603041 CLINVAR