NM_022041.4(GAN):c.1549T>C (p.Ser517Pro) AND Giant axonal neuropathy 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 15, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000693035.1
Allele description [Variation Report for NM_022041.4(GAN):c.1549T>C (p.Ser517Pro)]
NM_022041.4(GAN):c.1549T>C (p.Ser517Pro)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022