NM_000444.6(PHEX):c.-126C>G AND Familial X-linked hypophosphatemic vitamin D refractory rickets
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001168694.4
Allele description [Variation Report for NM_000444.6(PHEX):c.-126C>G]
NM_000444.6(PHEX):c.-126C>G
Condition(s)
- Name:
- Familial X-linked hypophosphatemic vitamin D refractory rickets (XLHR)
- Synonyms:
- HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS; Hypophosphatemic Rickets, X-Linked Dominant; Hypophosphatemia, vitamin D-resistant rickets; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010619; MedGen: C0733682; Orphanet: 89936; OMIM: 307800
Assertion and evidence details
Last Updated: Dec 24, 2023