NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs) AND Syndromic intellectual disability
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 18, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000162316.2
Allele description [Variation Report for NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs)]
NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs)
Condition(s)
- Name:
- Syndromic intellectual disability
- Synonyms:
- Intellectual disability syndrome
- Identifiers:
- MONDO: MONDO:0000508; MedGen: C5680525
Assertion and evidence details
Last Updated: Feb 4, 2024