NM_001330301.2(SAP130):c.2926G>A (p.Glu976Lys) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004142463.1
Allele description [Variation Report for NM_001330301.2(SAP130):c.2926G>A (p.Glu976Lys)]
NM_001330301.2(SAP130):c.2926G>A (p.Glu976Lys)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Jun 9, 2024