NM_000489.5(ATRX):c.6811A>G (p.Arg2271Gly) AND Mental retardation-hypotonic facies syndrome, X-linked
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 15, 2005
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000012512.22
Allele description
NM_000489.5(ATRX):c.6811A>G (p.Arg2271Gly)
Condition(s)
- Name:
- Mental retardation-hypotonic facies syndrome, X-linked
- Identifiers:
- MedGen: C4016452
Assertion and evidence details
Last Updated: Feb 7, 2021