NM_006950.3(SYN1):c.1704C>G (p.Ser568=) AND Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003097142.3
Allele description [Variation Report for NM_006950.3(SYN1):c.1704C>G (p.Ser568=)]
NM_006950.3(SYN1):c.1704C>G (p.Ser568=)
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
-
RIKEN cDNA 2310003F16 gene [Mus musculus]
RIKEN cDNA 2310003F16 gene [Mus musculus]gi|54887387|gb|AAH38469.1|Protein
-
Homo sapiens olfactory receptor, family 51, subfamily B, member 5, mRNA (cDNA cl...
Homo sapiens olfactory receptor, family 51, subfamily B, member 5, mRNA (cDNA clone MGC:168321 IMAGE:9020698), complete cdsgi|187953316|gb|BC136708.1|Nucleotide
-
LOC106371641 [Brassica napus]
LOC106371641 [Brassica napus]Gene ID:106371641Gene
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Last Updated: Sep 29, 2024