NM_006031.6(PCNT):c.6819G>A (p.Gly2273=) AND Microcephalic osteodysplastic primordial dwarfism type II
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 11, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001000787.13
Allele description [Variation Report for NM_006031.6(PCNT):c.6819G>A (p.Gly2273=)]
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=)
Condition(s)
- Name:
- Microcephalic osteodysplastic primordial dwarfism type II (MOPD2)
- Synonyms:
- MOPD II; OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; Microcephalic osteodysplastic primordial dwarfism type 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008872; MedGen: C0432246; Orphanet: 2637; OMIM: 210720
Assertion and evidence details
Last Updated: Feb 20, 2024