SETD1B
This page contains an overview of the genetic variation in the SETD1B 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:
SETD1B gene and transcript details
Gene Name
SET domain containing 1B
Gene Links
Ensembl: ENSG00000139718 -
Locus Reference Genomic:
Genomic Location
Chromosome 12 : 122,242,644 - 122,268,145 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (5769 bases) | Protein (1923 aa) |
|---|---|---|
 |
ENST00000267197 | ENSP00000267197 |
 |
||
 |
NM_015048.1 | |
 |
Q9UPS6 |
Summary of SETD1B in Cardiomyopathies
SETD1B variants in ExAC
Details of the protein-altering SETD1B 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 | 236 | 0.00836 |
| Truncating | 5 | 0.00005 |
| Missense | 197 | 0.00713 |
| Inframe | 10 | 0.00023 |
| Splice Site | 24 | 0.00097 |