NM_006766.5(KAT6A):c.4674C>A (p.Ser1558Arg) AND Autism spectrum disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003127346.1
Allele description [Variation Report for NM_006766.5(KAT6A):c.4674C>A (p.Ser1558Arg)]
NM_006766.5(KAT6A):c.4674C>A (p.Ser1558Arg)
Condition(s)
- Name:
- Autism spectrum disorder
- Synonyms:
- Autism spectrum disorders
- Identifiers:
- MONDO: MONDO:0005258; MeSH: D000067877; MedGen: C1510586
Assertion and evidence details
Last Updated: May 6, 2023