NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) AND not provided
- Germline classification:
- Pathogenic (4 submissions)
- Last evaluated:
- May 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000351204.11
Allele description [Variation Report for NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)]
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Sep 1, 2024