ZMYND11 Chromosome 10
Zinc finger MYND-type containing 11
Upload your DNA to see your personal genotypes for variants in ZMYND11.
What This Gene Does
The protein encoded by this gene was first identified by its ability to bind the adenovirus E1A protein. The protein localizes to the nucleus. It functions as a transcriptional repressor, and expression of E1A inhibits this repression. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers MYND-type|PHD finger proteins|PWWP domain containing|Bromodomain containing"
Locus Type
gene with protein product
Location
10p15.3
Ensembl
ENSG00000015171
Associated Conditions (7)
Inborn genetic diseases
See cases
Intellectual disability
autosomal dominant 30
ZMYND11-related disorder
Global developmental delay
Neurodevelopmental disorder
Key Variants
RS1056532914
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1366091446
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1437939162
Conflicting classifications of pathogenicity
Health Risk
RS1554793294
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2538907768
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS2539834004
Conflicting classifications of pathogenicity
Health Risk
RS2540007941
Conflicting classifications of pathogenicity
Health Risk
RS374548684
Conflicting classifications of pathogenicity
Health Risk
RS765773988
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 30, Inborn genetic diseases
Health Risk
RS1057518121
Likely pathogenic
Health Risk
RS1951070330
Likely pathogenic
Health Risk
RS1951082266
Likely pathogenic
Intellectual disability, autosomal dominant 30, Intellectual disability
Health Risk
All Variants (71)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2132046601 | Health Risk | Pathogenic | — |
| RS2539849600 | Health Risk | Pathogenic | — |
| RS2539906008 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 30, Intellectual disability |
| RS2539906042 | Health Risk | Pathogenic | — |
| RS2540008595 | Health Risk | Pathogenic | — |
| RS2540008767 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 30, Intellectual disability |
| RS2540045854 | Health Risk | Pathogenic | — |
| RS2540046247 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 30, Intellectual disability |
| RS2540056456 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 30, Intellectual disability |
| RS2540122013 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 30, Intellectual disability |
| RS376943614 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 30, Intellectual disability |
| RS606231267 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 30, Intellectual disability |
| RS606231268 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 30, Intellectual disability |
| RS672601340 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 30, Intellectual disability |
| RS672601341 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 30, Intellectual disability |
| RS772620276 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 30, Inborn genetic diseases |
| RS1135401797 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 30, Intellectual disability |
| RS1554789246 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 30, Intellectual disability |
| RS1952647904 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2540023102 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 30, Intellectual disability |
| RS797044854 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Intellectual disability, autosomal dominant 30 |