NM_005051.3(QARS1):c.2220G>C (p.Lys740Asn) AND Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003022185.2
Allele description [Variation Report for NM_005051.3(QARS1):c.2220G>C (p.Lys740Asn)]
NM_005051.3(QARS1):c.2220G>C (p.Lys740Asn)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024