NM_004463.3(FGD1):c.1143_1145del (p.Leu382del) AND Aarskog syndrome
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000856731.1
Allele description [Variation Report for NM_004463.3(FGD1):c.1143_1145del (p.Leu382del)]
NM_004463.3(FGD1):c.1143_1145del (p.Leu382del)
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: Apr 15, 2023