NM_005787.6(ALG3):c.512G>A (p.Arg171Gln) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002512673.1
Allele description [Variation Report for NM_005787.6(ALG3):c.512G>A (p.Arg171Gln)]
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Apr 6, 2024