NM_000162.5(GCK):c.1190G>T (p.Arg397Leu) AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 21, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000518294.2
Allele description [Variation Report for NM_000162.5(GCK):c.1190G>T (p.Arg397Leu)]
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
RecName: Full=Integral membrane protein 2A; AltName: Full=Protein E25
RecName: Full=Integral membrane protein 2A; AltName: Full=Protein E25gi|6016399|sp|O43736.2|ITM2A_HUMANProtein
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Last Updated: May 7, 2024