NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln) AND ALMS1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003401665.4
Allele description [Variation Report for NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln)]
NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln)
Condition(s)
- Name:
- ALMS1-related disorder
- Synonyms:
- ALMS1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Sep 29, 2024