NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser) AND Hyperinsulinism-hyperammonemia syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Nov 19, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000278798.6
Allele description [Variation Report for NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser)]
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser)
Condition(s)
-
thiamine phosphate synthase [Listeria monocytogenes]
thiamine phosphate synthase [Listeria monocytogenes]gi|1375552902|gnl|PRJNA261392|C7I29 5|gb|AVW14881.1|Protein
-
TPH1 tryptophan hydroxylase 1 [Homo sapiens]
TPH1 tryptophan hydroxylase 1 [Homo sapiens]Gene ID:7166Gene
-
Gene Links for GEO Profiles (Select 48929800) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023