NM_004282.4(BAG2):c.*5140G>C AND RAB23-related Carpenter syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001159149.4
Allele description [Variation Report for NM_004282.4(BAG2):c.*5140G>C]
NM_004282.4(BAG2):c.*5140G>C
Condition(s)
- Name:
- RAB23-related Carpenter syndrome
- Synonyms:
- ACPS II; Acrocephalopolysyndactyly type 2; ACPS 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008710; MedGen: C4551510; Orphanet: 65759; OMIM: 201000
Assertion and evidence details
Last Updated: Dec 24, 2023