NM_001378452.1(ITPR1):c.438C>T (p.Ala146=) AND not specified
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 30, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001288639.2
Allele description [Variation Report for NM_001378452.1(ITPR1):c.438C>T (p.Ala146=)]
NM_001378452.1(ITPR1):c.438C>T (p.Ala146=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: May 7, 2024