NM_006950.3(SYN1):c.1471del (p.Gln491fs) AND Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 31, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001378193.5
Allele description [Variation Report for NM_006950.3(SYN1):c.1471del (p.Gln491fs)]
NM_006950.3(SYN1):c.1471del (p.Gln491fs)
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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Micralestes lualabae isolate 331 cytochrome c oxidase subunit I (COI) gene, part...
Micralestes lualabae isolate 331 cytochrome c oxidase subunit I (COI) gene, partial cds; mitochondrialgi|873293122|gb|KT193307.1|Nucleotide
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BJ636721 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cD...
BJ636721 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cDNA clone XL191m06 3', mRNA sequencegi|37293258|gnl|dbEST|19941732|dbj| 721.1|Nucleotide
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Taxonomy Links for Protein (Select 406356346) (1)
Taxonomy
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Crassula corallina subsp. corallina voucher Bruyns 12958 (BOL) tRNA-Leu (trnL) g...
Crassula corallina subsp. corallina voucher Bruyns 12958 (BOL) tRNA-Leu (trnL) gene, partial sequence; trnL-trnF intergenic spacer, complete sequence; and tRNA-Phe (trnF) gene, partial sequence; chloroplastgi|1512456698|gb|MH503118.1|Nucleotide
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Mesembryanthemum longipapillosum chloroplast atpB - rbcL intergenic spacer, spec...
Mesembryanthemum longipapillosum chloroplast atpB - rbcL intergenic spacer, specimen voucher Mannheimer 2654 (BOL)gi|121489190|emb|AM161305.1|Nucleotide
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Last Updated: Sep 29, 2024