RGD:8555646 Rat Genome Database

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Variant: RGD:8555646 -  Homo sapiens

RGD ID: 8555646
RS ID: rs104894275
ClinVar ID: CV15518
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 112,099,388
GRCh38 11 112,228,665
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
NG_008743.1:g.7301A>G
NC_000011.10:g.112228665A>G
NC_000011.9:g.112099388A>G
NP_000308.1:p.Asn52Ser
More... 		12/10/2018 missense|missense variant pathogenic neonatal/infancy 1-9 / 1 000 000 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:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTEGGGRRCQAQVSRRISFSASHRLYSKFLSDEENLKLFGKCNNPNGHGHSYKVVVTVHGEIDPATGMVMNLADLKKYM
EEAIMQPLDHKNLDMDVPYFADVVSTTENVAVYIWDNLQKVLPVGVLYKVKVYETDNNIVVYKGE*
Variant Samples
Additional References at PubMed
PMID:8707300   PMID:9450907   PMID:11438997   PMID:11694255   PMID:17160954   PMID:20059486   PMID:22237589   PMID:23138986   PMID:25741868   PMID:27246466   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000000508 CLINVAR
  RCV003156211 CLINVAR
  RCV003924789 CLINVAR
dbSNP (RS) rs104894275 CLINVAR
MedGen C0878676 CLINVAR
  C3661900 CLINVAR
NCBI Gene PTS CLINVAR
OMIM 261640 CLINVAR
  612719 CLINVAR
OMIM Allele 612719.0004 CLINVAR
SNOMED CT 237914002 CLINVAR