RGD:13792254 Rat Genome Database

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Variant: RGD:13792254 -  Homo sapiens

RGD ID: 13792254
RS ID: rs762894736
ClinVar ID: CV545772
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 112,104,178
GRCh38 11 112,233,455
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008743.1:g.12091A>G
NC_000011.10:g.112233455A>G
NC_000011.9:g.112104178A>G
NP_000308.1:p.Tyr113Cys
More... 		10/18/2021 missense variant conflicting interpretations of pathogenicity|uncertain significance 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; 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: Y to C (nonsynonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTEGGGRRCQAQVSRRISFSASHRLYSKFLSDEENLKLFGKCNNPNGHGHNYKVVVTVHGEIDPATGMVMNLADLKKYM
EEAIMQPLDHKNLDMDVPYFADVVSTTENVAVCIWDNLQKVLPVGVLYKVKVYETDNNIVVYKGE*
Variant Samples
Additional References at PubMed
PMID:16917893   PMID:22237589   PMID:25741868   PMID:28492532   PMID:32651154   PMID:36313470  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000668484 CLINVAR
  RCV002531199 CLINVAR
dbSNP (RS) rs762894736 CLINVAR
MedGen C0878676 CLINVAR
  C0950123 CLINVAR
NCBI Gene PTS CLINVAR
OMIM 261640 CLINVAR
  612719 CLINVAR
SNOMED CT 237914002 CLINVAR