NM_000642.3(AGL):c.4433T>C (p.Ile1478Thr) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 22, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002697810.2
Allele description [Variation Report for NM_000642.3(AGL):c.4433T>C (p.Ile1478Thr)]
NM_000642.3(AGL):c.4433T>C (p.Ile1478Thr)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: May 1, 2024