NM_000026.4(ADSL):c.1343C>G (p.Ser448Cys) AND Adenylosuccinate lyase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000822391.6
Allele description [Variation Report for NM_000026.4(ADSL):c.1343C>G (p.Ser448Cys)]
NM_000026.4(ADSL):c.1343C>G (p.Ser448Cys)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024