NM_030632.3(ASXL3):c.4322C>G (p.Ser1441Ter) AND Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 2, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001265230.1
Allele description [Variation Report for NM_030632.3(ASXL3):c.4322C>G (p.Ser1441Ter)]
NM_030632.3(ASXL3):c.4322C>G (p.Ser1441Ter)
Condition(s)
Assertion and evidence details
Last Updated: Jan 7, 2023