NM_005051.3(QARS1):c.107C>G (p.Ala36Gly) AND Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 28, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001202373.4
Allele description [Variation Report for NM_005051.3(QARS1):c.107C>G (p.Ala36Gly)]
NM_005051.3(QARS1):c.107C>G (p.Ala36Gly)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024