NM_001378452.1(ITPR1):c.3057A>G (p.Ser1019=) AND ITPR1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 15, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003910361.1
Allele description [Variation Report for NM_001378452.1(ITPR1):c.3057A>G (p.Ser1019=)]
NM_001378452.1(ITPR1):c.3057A>G (p.Ser1019=)
Condition(s)
- Name:
- ITPR1-related disorder
- Synonyms:
- ITPR1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024