NM_000444.6(PHEX):c.1383G>A (p.Thr461=) AND Familial X-linked hypophosphatemic vitamin D refractory rickets
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002495488.1
Allele description [Variation Report for NM_000444.6(PHEX):c.1383G>A (p.Thr461=)]
NM_000444.6(PHEX):c.1383G>A (p.Thr461=)
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
-
cyclin-dependent kinase 15 isoform X4 [Homo sapiens]
cyclin-dependent kinase 15 isoform X4 [Homo sapiens]gi|767919302|ref|XP_011509956.1|Protein
-
CYP24A1 cytochrome P450 family 24 subfamily A member 1 [Otolemur garnettii]
CYP24A1 cytochrome P450 family 24 subfamily A member 1 [Otolemur garnettii]Gene ID:100948814Gene
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Last Updated: Sep 29, 2024