NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr) AND Baraitser-winter syndrome 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 3, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000501273.6
Allele description [Variation Report for NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr)]
NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024