NM_020159.5(SMARCAD1):c.1733-4C>A AND Basan syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003991988.1
Allele description [Variation Report for NM_020159.5(SMARCAD1):c.1733-4C>A]
NM_020159.5(SMARCAD1):c.1733-4C>A
Condition(s)
- Name:
- Basan syndrome
- Synonyms:
- Ectodermal dysplasia absent dermatoglyphics; Ectodermal dysplasia, absent dermatoglyphic pattern, with change in nails and simian crease; ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS, AND SIMIAN CREASE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007507; MedGen: C0406707; Orphanet: 1658; OMIM: 129200
Assertion and evidence details
Last Updated: Apr 15, 2024