NM_139058.3(ARX):c.197-15C>T AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003812382.2
Allele description [Variation Report for NM_139058.3(ARX):c.197-15C>T]
NM_139058.3(ARX):c.197-15C>T
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
-
Homologene neighbors for GEO Profiles (Select 78758882) (0)
GEO Profiles
-
Homologene neighbors for GEO Profiles (Select 78765872) (0)
GEO Profiles
-
Profile neighbors for GEO Profiles (Select 78765872) (199)
GEO Profiles
-
Homologene neighbors for GEO Profiles (Select 78799952) (0)
GEO Profiles
-
Chromosome neighbors for GEO Profiles (Select 78799952) (20)
GEO Profiles
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 8, 2024