NM_003038.5(SLC1A4):c.1120G>A (p.Gly374Arg) AND Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003320284.3
Allele description [Variation Report for NM_003038.5(SLC1A4):c.1120G>A (p.Gly374Arg)]
NM_003038.5(SLC1A4):c.1120G>A (p.Gly374Arg)
Condition(s)
Assertion and evidence details
Last Updated: Jun 23, 2024