NM_005271.5(GLUD1):c.1617T>C (p.Tyr539=) AND Hyperinsulinism-hyperammonemia syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003632280.2
Allele description [Variation Report for NM_005271.5(GLUD1):c.1617T>C (p.Tyr539=)]
NM_005271.5(GLUD1):c.1617T>C (p.Tyr539=)
Condition(s)
-
Ramularia archangelicae strain CBS 108991 28S ribosomal RNA gene, partial sequen...
Ramularia archangelicae strain CBS 108991 28S ribosomal RNA gene, partial sequencegi|1097196736|gb|KX287027.1|Nucleotide
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Last Updated: Sep 29, 2024