NM_000500.9(CYP21A2):c.1070G>C (p.Arg357Pro) AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002069396.2
Allele description [Variation Report for NM_000500.9(CYP21A2):c.1070G>C (p.Arg357Pro)]
NM_000500.9(CYP21A2):c.1070G>C (p.Arg357Pro)
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
-
"77602-92-7"[CompleteSynonym] (1)
PubChem Compound
-
Salmonella enterica subsp. enterica serovar Montevideo strain 12TTU01-1-31-1 NOD...
Salmonella enterica subsp. enterica serovar Montevideo strain 12TTU01-1-31-1 NODE_38_length_42769_cov_20.1589, whole genome shotgun sequencegi|1485882240|ref|NZ_QYXE01000038.1 |WGS:NZ_QYXE01|NODE_38_length_42769_cov_20.1589Nucleotide
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Last Updated: Feb 4, 2024