NM_001330701.2(AGTPBP1):c.3639A>C (p.Glu1213Asp) AND AGTPBP1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 14, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003939035.1
Allele description [Variation Report for NM_001330701.2(AGTPBP1):c.3639A>C (p.Glu1213Asp)]
NM_001330701.2(AGTPBP1):c.3639A>C (p.Glu1213Asp)
Condition(s)
- Name:
- AGTPBP1-related disorder
- Synonyms:
- AGTPBP1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024