NM_000485.3(APRT):c.188-145_296delinsTTCCCGTA AND Adenine phosphoribosyltransferase deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 1997
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000019963.28
Allele description [Variation Report for NM_000485.3(APRT):c.188-145_296delinsTTCCCGTA]
NM_000485.3(APRT):c.188-145_296delinsTTCCCGTA
Condition(s)
Assertion and evidence details
Last Updated: Aug 13, 2023