NM_006941.4(SOX10):c.89C>A (p.Ser30Ter) AND Hypogonadism with anosmia
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001249445.10
Allele description [Variation Report for NM_006941.4(SOX10):c.89C>A (p.Ser30Ter)]
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter)
Condition(s)
- Name:
- Hypogonadism with anosmia (KS)
- Synonyms:
- Kallmann syndrome; Anosmic idiopathic hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism-anosmia syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018800; MedGen: C0162809
Assertion and evidence details
Last Updated: May 12, 2024