SALL4
This page contains an overview of the genetic variation in the SALL4 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
SALL4 gene and transcript details
Gene Name
sal-like 4 (Drosophila)
Gene Links
Ensembl: ENSG00000101115 -
Locus Reference Genomic: LRG_675
Genomic Location
Chromosome 20 : 50,400,804 - 50,418,947 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (3159 bases) | Protein (1053 aa) |
|---|---|---|
 |
ENST00000217086 | ENSP00000217086 |
 |
LRG_675t1 | LRG_675p1 |
 |
NM_020436.3 | |
 |
Q9UJQ4 |
Summary of SALL4 in Cardiomyopathies
SALL4 variants in ExAC
Details of the protein-altering SALL4 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 373 | 0.00647 |
| Truncating | 3 | 0.00006 |
| Missense | 355 | 0.00607 |
| Inframe | 4 | 0.00012 |
| Splice Site | 11 | 0.00022 |