NM_000489.6(ATRX):c.7347T>G (p.Ser2449=) AND Alpha thalassemia-X-linked intellectual disability syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002133568.6
Allele description [Variation Report for NM_000489.6(ATRX):c.7347T>G (p.Ser2449=)]
NM_000489.6(ATRX):c.7347T>G (p.Ser2449=)
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
-
26S proteasome non-ATPase regulatory subunit 3 [Mus musculus]
26S proteasome non-ATPase regulatory subunit 3 [Mus musculus]gi|19705424|ref|NP_033465.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024