NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) AND Emery-Dreifuss muscular dystrophy 4, autosomal dominant
| Significance: | Pathogenic |
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| ClinVar: | RCV000002422 |
Variant: NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) |
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| Type: | Variant |
Allele: NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) 17371 |
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| Gene: | SYNE1 |
| Type: | single nucleotide variant |
| Location: |
Chr6: 152473122
- assembly
GRCh37 Chr6: 152151987 - assembly GRCh38 |
| References: | dbSNP:
119103246 OMIM: 608441.0008 |
Condition |
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| Disease: | Emery-Dreifuss muscular dystrophy 4, autosomal dominant |
Citation |
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In a man (family 1) with Emery-Dreifuss muscular dystrophy (EDMD4; 612998), Zhang et al. (2007) identified a heterozygous 966G-A transition in exon 6 of the SYNE1 gene, resulting in an arg257-to-his (R257H) substitution in the second spectrin repeat. He became wheelchair-bound at age 26 years but had no cardiac involvement. The mutation was not found in 384 control alleles. The patient's unaffected mother did not carry the variant; the father was deceased and not studied. PMID:17761684 |
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