NM_005677.4(COLQ):c.391A>G (p.Lys131Glu) AND Congenital myasthenic syndrome 5
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- Aug 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000687069.12
Allele description [Variation Report for NM_005677.4(COLQ):c.391A>G (p.Lys131Glu)]
NM_005677.4(COLQ):c.391A>G (p.Lys131Glu)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024