NM_000044.6(AR):c.2289C>G (p.Leu763=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003800380.2
Allele description [Variation Report for NM_000044.6(AR):c.2289C>G (p.Leu763=)]
NM_000044.6(AR):c.2289C>G (p.Leu763=)
Condition(s)
- Name:
- Androgen resistance syndrome (AIS)
- Synonyms:
- TESTICULAR FEMINIZATION SYNDROME; Androgen insensitivity syndrome; Androgen receptor deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0019154; MedGen: C0039585; Orphanet: 99429; OMIM: 300068
- Name:
- Kennedy disease (SMAX1)
- Synonyms:
- SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; Bulbo-spinal atrophy X-linked; Kennedy spinal and bulbar muscular atrophy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010735; MedGen: C1839259; Orphanet: 481; OMIM: 313200
Assertion and evidence details
Last Updated: Sep 29, 2024