NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) AND Oto-palato-digital syndrome, type II
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2007
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000012539.25
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 II (OPD2)
- Synonyms:
- OPD II SYNDROME; Oto-palato-digital syndrome type 2; Andre syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010571; MedGen: C1844696; Orphanet: 669; Orphanet: 90652; OMIM: 304120
Assertion and evidence details
Last Updated: Oct 26, 2024