NM_005271.5(GLUD1):c.*1282G>C AND Hyperinsulinism-hyperammonemia syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000355266.5
Allele description [Variation Report for NM_005271.5(GLUD1):c.*1282G>C]
NM_005271.5(GLUD1):c.*1282G>C
Condition(s)
-
Homo sapiens methylphosphate capping enzyme, mRNA (cDNA clone MGC:14290 IMAGE:41...
Homo sapiens methylphosphate capping enzyme, mRNA (cDNA clone MGC:14290 IMAGE:4136145), complete cdsgi|39644607|gb|BC018935.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023