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
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Profile neighbors for GEO Profiles (Select 126332680) (200)
GEO Profiles
-
Sample from Paracoccus yeei ATCC BAA-599
Sample from Paracoccus yeei ATCC BAA-599biosample
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BioSample links for Nucleotide (Select 655312071) (1)
BioSample
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See more...Assertion and evidence details
Last Updated: Apr 15, 2024