NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) AND Hypogonadism with anosmia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000266990.13
Allele description [Variation Report for NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)]
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)
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: Sep 29, 2024