NM_000444.6(PHEX):c.1382C>G (p.Thr461Arg) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001066316.6
Allele description [Variation Report for NM_000444.6(PHEX):c.1382C>G (p.Thr461Arg)]
NM_000444.6(PHEX):c.1382C>G (p.Thr461Arg)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Sep 29, 2024