NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn) AND Pontocerebellar hypoplasia type 2A
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Sep 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001840052.10
Allele description [Variation Report for NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn)]
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn)
Condition(s)
Assertion and evidence details
Last Updated: Oct 20, 2024