NM_020754.4(ARHGAP31):c.482G>C (p.Ser161Thr) AND Adams-Oliver syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 19, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003141486.3
Allele description [Variation Report for NM_020754.4(ARHGAP31):c.482G>C (p.Ser161Thr)]
NM_020754.4(ARHGAP31):c.482G>C (p.Ser161Thr)
Condition(s)
- Name:
- Adams-Oliver syndrome 1 (AOS1)
- Synonyms:
- ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL; CONGENITAL SCALP DEFECTS WITH DISTAL LIMB REDUCTION ANOMALIES; Scalp and head syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024506; MedGen: C4551482; Orphanet: 974; OMIM: 100300
Assertion and evidence details
Last Updated: May 1, 2024