SALL2 Chromosome 14
Spalt like transcription factor 2
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What This Gene Does
This gene encodes a protein containing multiple zinc finger domains. The encoded protein functions in optical fissure closure during development of the eye in the embryo. Mutations in this gene are associated with ocular coloboma. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
14q11.2
Ensembl
ENSG00000165821
Associated Conditions (4)
SALL2-related disorder
Coloboma
ocular
autosomal recessive
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111652113 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201605296 | Health Risk | Conflicting classifications of pathogenicity | SALL2-related disorder, SALL2-related disorder |
| RS587776429 | Health Risk | Pathogenic | Coloboma, ocular, autosomal recessive |