NM_182914.3(SYNE2):c.18661G>A (p.Glu6221Lys) AND Emery-Dreifuss muscular dystrophy 5, autosomal dominant
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 11, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003140743.3
Allele description [Variation Report for NM_182914.3(SYNE2):c.18661G>A (p.Glu6221Lys)]
NM_182914.3(SYNE2):c.18661G>A (p.Glu6221Lys)
Condition(s)
-
transcriptional repressor p66 beta, putative [Pediculus humanus corporis]
transcriptional repressor p66 beta, putative [Pediculus humanus corporis]gi|242004468|ref|XP_002423105.1|Protein
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Last Updated: Mar 16, 2024