NM_000500.9(CYP21A2):c.1070G>A (p.Arg357Gln) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003089112.2
Allele description
NM_000500.9(CYP21A2):c.1070G>A (p.Arg357Gln)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Maturity-onset diabetes of the young type 11
Maturity-onset diabetes of the young type 11MedGen
-
C3150618[conceptid] (1)
MedGen
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Mymaridae sp. BIOUG16755-...
cytochrome oxidase subunit 1, partial (mitochondrion) [Mymaridae sp. BIOUG16755-G05]gi|1503035002|gb|AYP61364.1|Protein
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024