NM_139058.3(ARX):c.543C>T (p.Pro181=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002055419.5
Allele description [Variation Report for NM_139058.3(ARX):c.543C>T (p.Pro181=)]
NM_139058.3(ARX):c.543C>T (p.Pro181=)
Condition(s)
- Name:
- Developmental and epileptic encephalopathy, 1 (DEE1)
- Synonyms:
- INFANTILE SPASM SYNDROME, X-LINKED 1; X-linked infantile spasms; West's syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010632; MedGen: C3463992; OMIM: 308350
- Name:
- Intellectual disability, X-linked, with or without seizures, arx-related (XLID29)
- Synonyms:
- MENTAL RETARDATION, X-LINKED 29; MENTAL RETARDATION, X-LINKED 32; MENTAL RETARDATION, X-LINKED 33; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010317; MedGen: C0796244; Orphanet: 777; OMIM: 300419
Assertion and evidence details
Last Updated: Mar 5, 2024