SMARCAD1 Chromosome 4
SNF2 related chromatin remodeling ATPase with DExD box 1
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What This Gene Does
This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
SNF2 related family
Locus Type
gene with protein product
Location
4q22.3
Ensembl
ENSG00000163104
Associated Conditions (4)
Inborn genetic diseases
Keratoderma with scleroatrophy of the extremities
Adermatoglyphia
Basan syndrome
Key Variants
RS200948051
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1560542214
Likely pathogenic
Keratoderma with scleroatrophy of the extremities, Keratoderma with scleroatrophy of the extremities
Health Risk
RS1057519613
Pathogenic
Adermatoglyphia, Basan syndrome, Adermatoglyphia
Health Risk
RS1114167276
Pathogenic
Adermatoglyphia, Keratoderma with scleroatrophy of the extremities, Adermatoglyphia
Health Risk
RS1114167277
Pathogenic
Adermatoglyphia, Adermatoglyphia
Health Risk
RS1560542180
Pathogenic
Keratoderma with scleroatrophy of the extremities, Keratoderma with scleroatrophy of the extremities
Health Risk
RS895436485
Pathogenic
Basan syndrome, Basan syndrome
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200948051 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1560542214 | Health Risk | Likely pathogenic | Keratoderma with scleroatrophy of the extremities, Keratoderma with scleroatrophy of the extremities |
| RS1057519613 | Health Risk | Pathogenic | Adermatoglyphia, Basan syndrome, Adermatoglyphia |
| RS1114167276 | Health Risk | Pathogenic | Adermatoglyphia, Keratoderma with scleroatrophy of the extremities, Adermatoglyphia |
| RS1114167277 | Health Risk | Pathogenic | Adermatoglyphia, Adermatoglyphia |
| RS1560542180 | Health Risk | Pathogenic | Keratoderma with scleroatrophy of the extremities, Keratoderma with scleroatrophy of the extremities |
| RS895436485 | Health Risk | Pathogenic | Basan syndrome, Basan syndrome |