NM_025077.4(TOE1):c.1487C>T (p.Ser496Phe) AND Pontocerebellar hypoplasia type 7
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 16, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000851259.1
Allele description [Variation Report for NM_025077.4(TOE1):c.1487C>T (p.Ser496Phe)]
NM_025077.4(TOE1):c.1487C>T (p.Ser496Phe)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022