RGD:13532656 Rat Genome Database

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Variant: RGD:13532656 -  Homo sapiens

RGD ID: 13532656
RS ID: rs372690172
ClinVar ID: CV508218
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TYMP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 50,966,161
GRCh38 22 50,527,732
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001953.3:c.517-15G>A
LRG_727t1:c.517-15G>A
LRG_727t2:c.517-15G>A
NC_000022.10:g.50966161C>T
More... 		01/13/2018 intron variant likely benign|uncertain significance AllHighlyPenetrant; 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; none provided; 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_001113755
Location:INTRON

Gene Symbol:TYMP
Accession:NM_001953
Location:INTRON

Gene Symbol:TYMP
Accession:NM_001257989
Location:INTRON

Gene Symbol:TYMP
Accession:NM_001257988
Location:INTRON

Gene Symbol:TYMP
Accession:NM_001113756
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000606871 CLINVAR
  RCV001145862 CLINVAR
  RCV002065305 CLINVAR
dbSNP (RS) rs372690172 CLINVAR
MedGen C3661900 CLINVAR
  C4551995 CLINVAR
  CN169374 CLINVAR
NCBI Gene TYMP CLINVAR
OMIM 131222 CLINVAR
  603041 CLINVAR