NM_000487.6(ARSA):c.1528T>C (p.Ter510Arg) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003123391.2
Allele description [Variation Report for NM_000487.6(ARSA):c.1528T>C (p.Ter510Arg)]
NM_000487.6(ARSA):c.1528T>C (p.Ter510Arg)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Feb 18, 2023