NM_000500.9(CYP21A2):c.1170A>T (p.Gln390His) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 24, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000984575.2
Allele description [Variation Report for NM_000500.9(CYP21A2):c.1170A>T (p.Gln390His)]
NM_000500.9(CYP21A2):c.1170A>T (p.Gln390His)
Condition(s)
- Name:
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Synonyms:
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency; CYP21 deficiency; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Identifiers:
- MONDO: MONDO:0008728; MedGen: C2936858; Orphanet: 90794; OMIM: 201910
-
LOC110305437 [Mus caroli]
LOC110305437 [Mus caroli]Gene ID:110305437Gene
-
PubChem Compound Links for Structure (Select 160950) (1)
PubChem Compound
-
Conserved Domain Links for Structure (Select 160952) (7)
Conserved Domains
-
hypothetical protein BOX15_Mlig009315g4 [Macrostomum lignano]
hypothetical protein BOX15_Mlig009315g4 [Macrostomum lignano]gi|1236543412|gb|PAA66490.1||gnl|WG C|BOX15_Mlig009315.g4.aaProtein
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See more...Assertion and evidence details
Last Updated: Nov 11, 2023