NM_002241.5(KCNJ10):c.111C>T (p.Ser37=) AND EAST syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003619105.1
Allele description
NM_002241.5(KCNJ10):c.111C>T (p.Ser37=)
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
Assertion and evidence details
Last Updated: Feb 28, 2024