NM_002734.5(PRKAR1A):c.*2072G>A AND Acrodysostosis 1 with or without hormone resistance
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000364353.5
Allele description [Variation Report for NM_002734.5(PRKAR1A):c.*2072G>A]
NM_002734.5(PRKAR1A):c.*2072G>A
Condition(s)
- Name:
- Acrodysostosis 1 with or without hormone resistance (ACRDYS1)
- Synonyms:
- Acrodysplasia; Nasal hypoplasia-peripheral dysostosis-mental retardation syndrome; Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007044; MedGen: C3276228; Orphanet: 280651; OMIM: 101800
Assertion and evidence details
Last Updated: Apr 9, 2023