NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) AND Emery-Dreifuss muscular dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001096842.4
Allele description [Variation Report for NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)]
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)
Condition(s)
-
Homo sapiens SH3 and SYLF domain containing 1 (SH3YL1), transcript variant 1, mR...
Homo sapiens SH3 and SYLF domain containing 1 (SH3YL1), transcript variant 1, mRNAgi|1653961048|ref|NM_015677.4|Nucleotide
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Last Updated: May 7, 2024