NM_003504.5(CDC45):c.1357G>A (p.Gly453Ser) AND Androgen resistance syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003446927.1
Allele description [Variation Report for NM_003504.5(CDC45):c.1357G>A (p.Gly453Ser)]
NM_003504.5(CDC45):c.1357G>A (p.Gly453Ser)
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
-
annexin A8 [Homo sapiens]
annexin A8 [Homo sapiens]gi|4502113|ref|NP_001621.1|Protein
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Last Updated: Oct 26, 2024