NM_000444.6(PHEX):c.2248T>G (p.Ter750Glu) AND Familial X-linked hypophosphatemic vitamin D refractory rickets
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002284001.1
Allele description [Variation Report for NM_000444.6(PHEX):c.2248T>G (p.Ter750Glu)]
NM_000444.6(PHEX):c.2248T>G (p.Ter750Glu)
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
-
Crenarchaeote enrichment culture clone SF06E-BG30-G01 ammonia monooxygenase subu...
Crenarchaeote enrichment culture clone SF06E-BG30-G01 ammonia monooxygenase subunit A (amoA) gene, partial cdsgi|194596030|gb|EU650885.1|Nucleotide
-
SPTP3102_p25 [Staphylococcus phage tp310-2]
SPTP3102_p25 [Staphylococcus phage tp310-2]Gene ID:5525410Gene
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Last Updated: May 7, 2024