NM_000117.3(EMD):c.265+17G>A AND X-linked Emery-Dreifuss muscular dystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003522445.2
Allele description [Variation Report for NM_000117.3(EMD):c.265+17G>A]
NM_000117.3(EMD):c.265+17G>A
Condition(s)
-
dynein axonemal intermediate chain 2 isoform 1 [Homo sapiens]
dynein axonemal intermediate chain 2 isoform 1 [Homo sapiens]gi|217416452|ref|NP_075462.3|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024