NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=) AND CYP1B1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 7, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004543371.2
Allele description [Variation Report for NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=)]
NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=)
Condition(s)
- Name:
- CYP1B1-related disorder
- Synonyms:
- CYP1B1-Related Disorders
- Identifiers:
- MedGen: CN239260
-
MAG: tRNA 2'-O-methylase [Syntrophus sp. PtaB.Bin001]
MAG: tRNA 2'-O-methylase [Syntrophus sp. PtaB.Bin001]gi|1166642988|gb|OPY15048.1||gnl|WG R|A4E66_00212Protein
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Last Updated: Oct 13, 2024