NM_213599.3(ANO5):c.191dup (p.Asn64fs) AND ANO5-related muscular dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003332991.1
Allele description [Variation Report for NM_213599.3(ANO5):c.191dup (p.Asn64fs)]
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
Condition(s)
- Name:
- ANO5-related muscular dystrophy
- Identifiers:
Assertion and evidence details
Last Updated: Jun 2, 2024