NM_000490.5(AVP):c.150C>A (p.Gly50=) AND Neurohypophyseal diabetes insipidus
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002495437.1
Allele description [Variation Report for NM_000490.5(AVP):c.150C>A (p.Gly50=)]
NM_000490.5(AVP):c.150C>A (p.Gly50=)
Condition(s)
- Name:
- Neurohypophyseal diabetes insipidus
- Synonyms:
- Pituitary diabetes insipidus; Diabetes insipidus cranial type; Diabetes Insipidus, Neurogenic; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007450; MedGen: C0342394; Orphanet: 178029; Orphanet: 30925; OMIM: 125700
Assertion and evidence details
Last Updated: May 26, 2024