NM_000162.5(GCK):c.1169del (p.Ile390fs) 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:
- RCV004527573.1
Allele description [Variation Report for NM_000162.5(GCK):c.1169del (p.Ile390fs)]
NM_000162.5(GCK):c.1169del (p.Ile390fs)
Condition(s)
- Name:
- Monogenic diabetes
- Identifiers:
- MONDO: MONDO:0015967; MedGen: C3888631
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Cited in PMC for PubMed (Select 28761823) (2)
PMC
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RING-H2 finger protein ATL80 [Triticum urartu]
RING-H2 finger protein ATL80 [Triticum urartu]gi|474447232|gb|EMS68646.1||gnl|WGS |TRIUR3_20769Protein
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Pseudoloma neurophilia strain MK1 NODE_9540, whole genome shotgun sequence
Pseudoloma neurophilia strain MK1 NODE_9540, whole genome shotgun sequencegi|948276713|gb|LGUB01001096.1||gnl LGUB01|NODE_9540Nucleotide
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Pseudoloma neurophilia strain MK1 NODE_9970, whole genome shotgun sequence
Pseudoloma neurophilia strain MK1 NODE_9970, whole genome shotgun sequencegi|948276653|gb|LGUB01001123.1||gnl LGUB01|NODE_9970Nucleotide
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Pseudoloma neurophilia strain MK1 NODE_10388, whole genome shotgun sequence
Pseudoloma neurophilia strain MK1 NODE_10388, whole genome shotgun sequencegi|948276605|gb|LGUB01001145.1||gnl LGUB01|NODE_10388Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024