NM_000444.6(PHEX):c.1536T>G (p.Tyr512Ter) AND Familial X-linked hypophosphatemic vitamin D refractory rickets
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 12, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004545896.2
Allele description [Variation Report for NM_000444.6(PHEX):c.1536T>G (p.Tyr512Ter)]
NM_000444.6(PHEX):c.1536T>G (p.Tyr512Ter)
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
-
LIM homeobox transcription factor 1-beta [Homo sapiens]
LIM homeobox transcription factor 1-beta [Homo sapiens]gi|4505007|ref|NP_002307.1|Protein
-
607989 (1)
OMIM
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024