RGD:8555651 Rat Genome Database

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Variant: RGD:8555651 -  Homo sapiens

RGD ID: 8555651
RS ID: rs104894280
ClinVar ID: CV15523
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 112,103,928
GRCh38 11 112,233,205
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.11841G>A
NC_000011.10:g.112233205G>A
NC_000011.9:g.112103928G>A
NP_000308.1:p.Asp96Asn
More... 		11/26/2018 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; 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: D to N (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTEGGGRRCQAQVSRRISFSASHRLYSKFLSDEENLKLFGKCNNPNGHGHNYKVVVTVHGEIDPATGMVMNLADLKKYM
EEAIMQPLDHKNLDMNVPYFADVVSTTENVAVYIWDNLQKVLPVGVLYKVKVYETDNNIVVYKGE*
Variant Samples
Additional References at PubMed
PMID:9450907   PMID:10319579   PMID:11694255   PMID:11916314   PMID:18505119   PMID:22237589   PMID:23138986   PMID:25304915   PMID:25456745   PMID:25525159   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000000513 CLINVAR
dbSNP (RS) rs104894280 CLINVAR
MedGen C0878676 CLINVAR
NCBI Gene PTS CLINVAR
OMIM 261640 CLINVAR
  612719 CLINVAR
OMIM Allele 612719.0009 CLINVAR
SNOMED CT 237914002 CLINVAR