NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly) AND Pontocerebellar hypoplasia type 1B
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002211035.1
Allele description [Variation Report for NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly)]
NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023