RGD:13606754 Rat Genome Database

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Variant: RGD:13606754 -  Homo sapiens

RGD ID: 13606754
RS ID: rs189365250
ClinVar ID: CV525902
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTS  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 112,104,152
GRCh38 11 112,233,429
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000317.3:c.315-3T>C
NG_008743.1:g.12065T>C
NM_000317.2:c.315-3T>C
NC_000011.10:g.112233429T>C
More... 		12/31/2019 intron variant benign|likely benign 6-pyruvoyl-tetrahydropterin synthase deficiency; 6-Pyruvoyltetrahydropterin Synthase Deficiency; BH4-deficient hyperphenylalaninemia A; Hyperphenylalanemia, BH4-deficient, A; Hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency; HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTS DEFICIENCY; none provided; PTS Deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PTS
Accession:NM_000317
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000638577 CLINVAR
  RCV001529210 CLINVAR
dbSNP (RS) rs189365250 CLINVAR
MedGen C0878676 CLINVAR
  C3661900 CLINVAR
NCBI Gene PTS CLINVAR
OMIM 261640 CLINVAR
  612719 CLINVAR
SNOMED CT 237914002 CLINVAR