NM_005271.5(GLUD1):c.*1501G>C AND Hyperinsulinism-hyperammonemia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001103439.4
Allele description [Variation Report for NM_005271.5(GLUD1):c.*1501G>C]
NM_005271.5(GLUD1):c.*1501G>C
Condition(s)
-
Oryza similar to Os03g02530 gene, partial sequence.
Oryza similar to Os03g02530 gene, partial sequence.PopSet: 338787383PopSet
-
txid4530[orgn] AND "isolate X3A 020 C10"[All Fields] (1)
PopSet
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023