NM_022041.4(GAN):c.743G>A (p.Cys248Tyr) AND Giant axonal neuropathy 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000698939.6
Allele description [Variation Report for NM_022041.4(GAN):c.743G>A (p.Cys248Tyr)]
NM_022041.4(GAN):c.743G>A (p.Cys248Tyr)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024