NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp) AND Familial X-linked hypophosphatemic vitamin D refractory rickets
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000505504.6
Allele description [Variation Report for NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp)]
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp)
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
-
Acetobacter papayae strain LMG 27040 heat shock protein 60 (groEL) gene, partial...
Acetobacter papayae strain LMG 27040 heat shock protein 60 (groEL) gene, partial cdsgi|589060613|gb|KF537443.1|Nucleotide
-
tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 6 [Homo...
tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 6 [Homo sapiens]gi|1007380412|ref|NP_001308090.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024