NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) AND Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- Germline classification:
- Benign (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:
- RCV000365463.13
Allele description [Variation Report for NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His)]
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His)
Condition(s)
-
Drosophila melanogaster genome survey sequence T7 end of BAC # BACR16L03 of RPCI...
Drosophila melanogaster genome survey sequence T7 end of BAC # BACR16L03 of RPCI-98 library from Drosophila melanogaster (fruit fly), genomic survey sequencegi|4933032|emb|AL050978.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024