NM_000162.5(GCK):c.1157T>G (p.Leu386Arg) AND Monogenic diabetes
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004527575.1
Allele description [Variation Report for NM_000162.5(GCK):c.1157T>G (p.Leu386Arg)]
NM_000162.5(GCK):c.1157T>G (p.Leu386Arg)
Condition(s)
- Name:
- Monogenic diabetes
- Identifiers:
- MONDO: MONDO:0015967; MedGen: C3888631
-
AGENCOURT_36113933 NIH_XGC_tropKid1 Xenopus tropicalis cDNA clone IMAGE:7466413 ...
AGENCOURT_36113933 NIH_XGC_tropKid1 Xenopus tropicalis cDNA clone IMAGE:7466413 5', mRNA sequencegi|55751772|gnl|dbEST|26386737|gb|C 03.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024