NM_018043.7(ANO1):c.508G>A (p.Glu170Lys) AND Moyamoya disease 7
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003492850.2
Allele description [Variation Report for NM_018043.7(ANO1):c.508G>A (p.Glu170Lys)]
NM_018043.7(ANO1):c.508G>A (p.Glu170Lys)
Condition(s)
Assertion and evidence details
Last Updated: Nov 10, 2024