NM_207346.3(TSEN54):c.536C>G (p.Pro179Arg) AND Pontoneocerebellar hypoplasia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001123606.4
Allele description [Variation Report for NM_207346.3(TSEN54):c.536C>G (p.Pro179Arg)]
NM_207346.3(TSEN54):c.536C>G (p.Pro179Arg)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024