NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) AND Oto-palato-digital syndrome, type I
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Feb 28, 2008
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000012538.26
Allele description [Variation Report for NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)]
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)
Condition(s)
- Name:
- Oto-palato-digital syndrome, type I (OPD1)
- Synonyms:
- OPD I SYNDROME; Oto-palato-digital syndrome type 1; Taybi syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010704; MedGen: C0265251; Orphanet: 669; OMIM: 311300
Assertion and evidence details
Last Updated: Oct 26, 2024