NM_000049.4(ASPA):c.315T>C (p.Ser105=) AND ASPA-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 12, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003948427.2
Allele description [Variation Report for NM_000049.4(ASPA):c.315T>C (p.Ser105=)]
NM_000049.4(ASPA):c.315T>C (p.Ser105=)
Condition(s)
- Name:
- ASPA-related disorder
- Synonyms:
- ASPA-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Oct 13, 2024