rs114252234
This variant is located in the SMARCAD1 gene.
▶ClinVar annotation
Benign★☆☆☆
1 submitter1 publicationAbout SMARCAD1
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]
View all SMARCAD1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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