NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) AND Ehlers-Danlos syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002277505.10
Allele description [Variation Report for NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg)]
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg)
Condition(s)
-
MAG: Ornithine carbamoyltransferase [Candidatus Bathyarchaeota archaeon BA1]
MAG: Ornithine carbamoyltransferase [Candidatus Bathyarchaeota archaeon BA1]gi|939572606|gb|KPV62513.1||gnl|WGS |AOA65_1786Protein
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Last Updated: Oct 26, 2024