NM_000444.6(PHEX):c.1586+1G>A AND Familial X-linked hypophosphatemic vitamin D refractory rickets
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 6, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000505483.5
Allele description [Variation Report for NM_000444.6(PHEX):c.1586+1G>A]
NM_000444.6(PHEX):c.1586+1G>A
Condition(s)
- Name:
- Familial X-linked hypophosphatemic vitamin D refractory rickets (XLHRD)
- 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
-
serine/threonine-protein kinase 26 [Cavia porcellus]
serine/threonine-protein kinase 26 [Cavia porcellus]gi|2687653361|ref|XP_012999860.2|Protein
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Last Updated: Sep 29, 2024