NM_000209.4(PDX1):c.455C>T (p.Ala152Val) AND Monogenic diabetes
- Germline classification:
- Uncertain significance (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:
- RCV001174445.2
Allele description [Variation Report for NM_000209.4(PDX1):c.455C>T (p.Ala152Val)]
NM_000209.4(PDX1):c.455C>T (p.Ala152Val)
Condition(s)
- Name:
- Monogenic diabetes
- Identifiers:
- MONDO: MONDO:0015967; MedGen: C3888631
-
Rattus norvegicus gamma-aminobutyric acid type A receptor subunit beta 2 (Gabrb2...
Rattus norvegicus gamma-aminobutyric acid type A receptor subunit beta 2 (Gabrb2), transcript variant 1, mRNAgi|2726160440|ref|NM_012957.3|Nucleotide
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Generalized hyperreflexia
Generalized hyperreflexiaMedGen
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Last Updated: Sep 29, 2024