NM_005476.7(GNE):c.1740del (p.Cys581fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 3, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003237982.9
Allele description [Variation Report for NM_005476.7(GNE):c.1740del (p.Cys581fs)]
NM_005476.7(GNE):c.1740del (p.Cys581fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Sep 8, 2024