NM_000349.3(STAR):c.574C>T (p.Arg192Cys) AND Congenital lipoid adrenal hyperplasia due to STAR deficency
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Aug 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000666231.3
Allele description [Variation Report for NM_000349.3(STAR):c.574C>T (p.Arg192Cys)]
NM_000349.3(STAR):c.574C>T (p.Arg192Cys)
Condition(s)
- Name:
- Congenital lipoid adrenal hyperplasia due to STAR deficency
- Synonyms:
- ADRENAL HYPERPLASIA I; Congenital lipoid adrenal hyperplasia; Lipoid CAH; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008725; MedGen: C0342474; Orphanet: 418; OMIM: 201710
-
NADH dehydrogenase subunit 4 (mitochondrion) [Orcaella heinsohni]
NADH dehydrogenase subunit 4 (mitochondrion) [Orcaella heinsohni]gi|2749526655|gb|XCB08830.1|Protein
-
Chain R, C-X-C chemokine receptor type 2
Chain R, C-X-C chemokine receptor type 2gi|1898545621|pdb|6LFO|RProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024