NM_004463.3(FGD1):c.2561A>G (p.Tyr854Cys) AND Aarskog syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003147240.3
Allele description [Variation Report for NM_004463.3(FGD1):c.2561A>G (p.Tyr854Cys)]
NM_004463.3(FGD1):c.2561A>G (p.Tyr854Cys)
Condition(s)
- Name:
- Aarskog syndrome (AAS)
- Synonyms:
- FGDY; Aarskog Scott syndrome; Aarskog disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010589; MedGen: C0175701; Orphanet: 915; OMIM: 305400
Assertion and evidence details
Last Updated: Sep 1, 2024