NM_000176.3(NR3C1):c.2209T>C (p.Phe737Leu) AND Glucocorticoid resistance
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 1, 2006
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000017541.27
Allele description [Variation Report for NM_000176.3(NR3C1):c.2209T>C (p.Phe737Leu)]
NM_000176.3(NR3C1):c.2209T>C (p.Phe737Leu)
Condition(s)
- Name:
- Glucocorticoid resistance
- Synonyms:
- Glucocorticoid resistance, generalized; Gccr deficiency; Glucocorticoid receptor deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0014421; MedGen: C1841972; Orphanet: 786; OMIM: 615962
-
cytochrome c oxidase subunit 1, partial (mitochondrion) [Metopeurum fuscoviride]
cytochrome c oxidase subunit 1, partial (mitochondrion) [Metopeurum fuscoviride]gi|1027960865|gb|ANE10013.1|Protein
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022