NM_002241.5(KCNJ10):c.1132A>T (p.Asn378Tyr) AND EAST syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 3, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001936642.4
Allele description [Variation Report for NM_002241.5(KCNJ10):c.1132A>T (p.Asn378Tyr)]
NM_002241.5(KCNJ10):c.1132A>T (p.Asn378Tyr)
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
-
Canis lupus familiaris
Canis lupus familiarisCorpus luteum (CL) transcriptome of non pregnant bitchesBioProject
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024