NM_024408.4(NOTCH2):c.6908C>A (p.Pro2303His) AND Hajdu-Cheney syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001963822.3
Allele description [Variation Report for NM_024408.4(NOTCH2):c.6908C>A (p.Pro2303His)]
NM_024408.4(NOTCH2):c.6908C>A (p.Pro2303His)
Condition(s)
- Name:
- Hajdu-Cheney syndrome (HJCYS)
- Synonyms:
- Acroosteolysis with osteoporosis and changes in skull and mandible; Cheney syndrome; Arthrodentoosteodysplasia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007057; MedGen: C0917715; Orphanet: 955; OMIM: 102500
Assertion and evidence details
Last Updated: Feb 20, 2024