NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter) AND Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 1, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000034815.7
Allele description [Variation Report for NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter)]
NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter)
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
-
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Homo sapiens neurexophilin and PC-esterase domain family member 3 (NXPE3), trans...
Homo sapiens neurexophilin and PC-esterase domain family member 3 (NXPE3), transcript variant 5, mRNAgi|1676318269|ref|NM_001348992.2|Nucleotide
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Mus musculus nuclear transcription factor, X-box binding 1 (Nfx1), transcript va...
Mus musculus nuclear transcription factor, X-box binding 1 (Nfx1), transcript variant 3, mRNAgi|594190891|ref|NM_001290449.1|Nucleotide
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Last Updated: May 19, 2024