NM_003995.4(NPR2):c.1263G>A (p.Thr421=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003781607.1
Allele description [Variation Report for NM_003995.4(NPR2):c.1263G>A (p.Thr421=)]
NM_003995.4(NPR2):c.1263G>A (p.Thr421=)
Condition(s)
- Name:
- Acromesomelic dysplasia 1, Maroteaux type (AMD1)
- Synonyms:
- Acromesomelic dwarfism Maroteux type; ST. HELENA DYSPLASIA; Acromesomelic dysplasia, Maroteaux type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011275; MedGen: C1864356; Orphanet: 40; OMIM: 602875
Assertion and evidence details
Last Updated: Mar 5, 2024