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PHEX Variants List


PHEX Variants List

To see more information, click on the Variant in the table. Hover on the Variant in the table to see its location on the gene. For more information on table headers, HGVS nomenclature, and ACMG classification please use the following links:

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Variant ID Variant Amino Acid Change ACMG Call Last Call Revised Predicted Call Variant Type Effect Type Times Observed PMID Article Count Clinical Phenotype Variant Strat Position Genomic Coordinate Location
112 c.332_334del p.Val111del Likely Pathogenic 2022-02-02 00:00:00 Small deletion Deletion < 3 34806794 1 332 g.22047194_22047196del Exon 3
137 c.416A>G p.Tyr139Cys Pathogenic 2022-02-02 00:00:00 SNV Missense 3-5 34806794 1 Gait Abnormalities 416 g.22076454A>G Exon 4
112 c.332_334del p.Val111del Likely Pathogenic 2022-02-02 00:00:00 Small deletion Deletion < 3 34806794 1 332 g.22047194_22047196del Exon 3
Notes:

  • All variants are referencing NM_000444.5 or NM_000444.6 and there is no change between these versions with respect to the coding sequence.
  • Genomic coordinates are calculated based on variant data provided: in some cases coordinates are estimated in order to allow users to sort the variants linearly, by approximation.

Definition of acronyms:
“*”: Referenced a stop codon insertion when listed under amino acid change.
ACMG: American College of Medical Genetics and Genomics
CNV: Copy number variant which here describes a change 100 DNA nucleotides or larger.
SNV: Single DNA nucleotide variant
del: Deletion
dup: Duplication
fs: Frameshift
ins: Insertion

PHEX gene variant data compiled from the following 2 manuscripts in preparation:

  1. Rush, E. et al., Hypophosphatemia gene panel sponsored program: High yield of molecular diagnoses from clinically confirmed and suspected X-linked hypophosphatemia.
  2. Sarafrazi, S. et al., PHEX: a review of gene variants associated with X-linked hypophosphatemia and new locus specific database Human Mutation.

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