NM_000515.5(GH1):c.413A>G (p.Asp138Gly) AND Short stature due to growth hormone qualitative anomaly
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 1997
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000017344.29
Allele description [Variation Report for NM_000515.5(GH1):c.413A>G (p.Asp138Gly)]
NM_000515.5(GH1):c.413A>G (p.Asp138Gly)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022