NM_002241.5(KCNJ10):c.1102G>C (p.Glu368Gln) AND EAST syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 15, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000533552.9
Allele description [Variation Report for NM_002241.5(KCNJ10):c.1102G>C (p.Glu368Gln)]
NM_002241.5(KCNJ10):c.1102G>C (p.Glu368Gln)
Condition(s)
- Name:
- EAST syndrome (SESAMES)
- Synonyms:
- SeSAME syndrome; Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; Epilepsy, ataxia, sensorineural deafness and tubulopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013005; MedGen: C2748572; Orphanet: 199343; OMIM: 612780
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Homo sapiens neugrin, neurite outgrowth associated, mRNA (cDNA clone MGC:2824 IM...
Homo sapiens neugrin, neurite outgrowth associated, mRNA (cDNA clone MGC:2824 IMAGE:2964457), complete cdsgi|33876410|gb|BC001682.2|Nucleotide
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Homologene neighbors for GEO Profiles (Select 122113077) (0)
GEO Profiles
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Homologene neighbors for GEO Profiles (Select 88077520) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 64950877) (200)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 122096173) (39)
GEO Profiles
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Last Updated: Sep 29, 2024