NM_001367721.1(CASK):c.1504-97G>A AND Syndromic X-linked intellectual disability Najm type
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003330242.2
Allele description [Variation Report for NM_001367721.1(CASK):c.1504-97G>A]
NM_001367721.1(CASK):c.1504-97G>A
Condition(s)
- Name:
- Syndromic X-linked intellectual disability Najm type (MICPCH)
- Synonyms:
- MICPCH SYNDROME; Mental retardation and microcephaly with pontine and cerebellar hypoplasia; MENTAL RETARDATION, X-LINKED, SYNDROMIC, NAJM TYPE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010417; MedGen: C2677903; Orphanet: 163937; OMIM: 300749
-
histone H3.1t [Homo sapiens]
histone H3.1t [Homo sapiens]gi|4504299|ref|NP_003484.1|Protein
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Last Updated: Oct 7, 2023