SUN1 Chromosome 7
Sad1 and UNC84 domain containing 1
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What This Gene Does
This gene is a member of the unc-84 homolog family and encodes a nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2019]
Gene Info
Gene Group
SUN family
Locus Type
gene with protein product
Location
7p22.3
Ensembl
ENSG00000164828
Associated Conditions (2)
Emery-Dreifuss muscular dystrophy
SUN1-related disorder
Key Variants
RS112200342
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
Health Risk
RS1296227373
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
Health Risk
RS1584895416
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
Health Risk
RS186121469
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
Health Risk
RS199915497
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
Health Risk
RS200907784
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy, SUN1-related disorder, Emery-Dreifuss muscular dystrophy
Health Risk
RS371879209
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
Health Risk
RS373925818
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
Health Risk
RS374040275
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
Health Risk
RS377260468
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
Health Risk
RS541487561
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
Health Risk
RS748866016
Conflicting classifications of pathogenicity
Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112200342 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS1296227373 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS1584895416 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS186121469 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS199915497 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS200907784 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, SUN1-related disorder, Emery-Dreifuss muscular dystrophy |
| RS371879209 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS373925818 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS374040275 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS377260468 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS541487561 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS748866016 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS750658890 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS760512224 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS763364681 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS763647876 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |
| RS775882448 | Health Risk | Conflicting classifications of pathogenicity | Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy |