NM_030808.5(NDEL1):c.940A>C (p.Lys314Gln) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004223284.1
Allele description [Variation Report for NM_030808.5(NDEL1):c.940A>C (p.Lys314Gln)]
NM_030808.5(NDEL1):c.940A>C (p.Lys314Gln)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
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Progesterone
ProgesteroneThe major progestational steroid that is secreted primarily by the CORPUS LUTEUM and the PLACENTA. Progesterone acts on the UTERUS, the MAMMARY GLANDS and the BRAIN. It is req...<br/>MeSH
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Testosterone
TestosteroneA potent androgenic steroid and major product secreted by the LEYDIG CELLS of the TESTIS. Its production is stimulated by LUTEINIZING HORMONE from the PITUITARY GLAND. In turn...<br/>Year introduced: 1963MeSH
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Pregnenolone
PregnenoloneA 21-carbon steroid, derived from CHOLESTEROL and found in steroid hormone-producing tissues. Pregnenolone is the precursor to GONADAL STEROID HORMONES and the adrenal CORTICO...<br/>MeSH
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Last Updated: Oct 13, 2024