NM_001378454.1(ALMS1):c.8138C>T (p.Thr2713Ile) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 26, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001817434.4
Allele description [Variation Report for NM_001378454.1(ALMS1):c.8138C>T (p.Thr2713Ile)]
NM_001378454.1(ALMS1):c.8138C>T (p.Thr2713Ile)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Sep 29, 2024