NM_177977.3(HAP1):c.1514C>T (p.Ala505Val) AND HAP1-related disorder
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Feb 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003916771.1
Allele description [Variation Report for NM_177977.3(HAP1):c.1514C>T (p.Ala505Val)]
NM_177977.3(HAP1):c.1514C>T (p.Ala505Val)
Condition(s)
- Name:
- HAP1-related disorder
- Synonyms:
- HAP1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024