NM_139058.3(ARX):c.1039T>C (p.Phe347Leu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 13, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001071777.7
Allele description [Variation Report for NM_139058.3(ARX):c.1039T>C (p.Phe347Leu)]
NM_139058.3(ARX):c.1039T>C (p.Phe347Leu)
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
-
Homo sapiens lebercilin LCA5 like (LCA5L), mRNA
Homo sapiens lebercilin LCA5 like (LCA5L), mRNAgi|53832012|ref|NM_152505.3|Nucleotide
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Last Updated: Oct 8, 2024