NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg) AND Alpha thalassemia-X-linked intellectual disability syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Sep 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001271463.10
Allele description [Variation Report for NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg)]
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg)
Condition(s)
- Name:
- Alpha thalassemia-X-linked intellectual disability syndrome (ATRX)
- Synonyms:
- ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATR-X syndrome; Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010519; MedGen: C1845055; Orphanet: 847; OMIM: 301040
Assertion and evidence details
Last Updated: Oct 13, 2024