NM_006950.3(SYN1):c.1578C>G (p.Thr526=) AND Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002134427.6
Allele description [Variation Report for NM_006950.3(SYN1):c.1578C>G (p.Thr526=)]
NM_006950.3(SYN1):c.1578C>G (p.Thr526=)
Condition(s)
- Name:
- Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
- Synonyms:
- Epilepsy, X-linked, with variable learning disabilities and behavior disorders; X-linked epilepsy-learning disabilities-behavior disorders syndrome
- Identifiers:
- MONDO: MONDO:0010339; MedGen: C5774177; Orphanet: 85294; OMIM: 300491
-
Homo sapiens unk like zinc finger (UNKL), transcript variant 5, mRNA
Homo sapiens unk like zinc finger (UNKL), transcript variant 5, mRNAgi|1635577158|ref|NM_001276414.2|Nucleotide
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Last Updated: Sep 29, 2024