NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met) AND Microcephalic osteodysplastic primordial dwarfism type II
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Nov 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001001877.13
Allele description [Variation Report for NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met)]
NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met)
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
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cell surface protein [Lactiplantibacillus plantarum]
cell surface protein [Lactiplantibacillus plantarum]gi|2513465072|dbj|BEI48584.1|Protein
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Homologene neighbors for GEO Profiles (Select 74772634) (0)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 101606348) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: May 7, 2024