NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) AND Microcephalic Osteodysplastic Primordial Dwarfism
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000395582.1
Allele description
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys)
Condition(s)
- Name:
- Microcephalic Osteodysplastic Primordial Dwarfism
- Identifiers:
- MONDO: MONDO:0000060; MedGen: CN239360
-
putative methionyl-tRNA synthetase [Candidatus Hodgkinia cicadicola Dsem]
putative methionyl-tRNA synthetase [Candidatus Hodgkinia cicadicola Dsem]gi|253739996|gnl|eebua|HCDSEM_157|g 34331.1|Protein
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See more...Assertion and evidence details
Last Updated: May 4, 2020