NM_004278.4(PIGL):c.439G>A (p.Asp147Asn) AND Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000352263.6
Allele description [Variation Report for NM_004278.4(PIGL):c.439G>A (p.Asp147Asn)]
NM_004278.4(PIGL):c.439G>A (p.Asp147Asn)
Condition(s)
- Name:
- Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
- Identifiers:
- MedGen: CN239148
Assertion and evidence details
Last Updated: Apr 9, 2023