H3-3A Chromosome 1
H3.3 histone A
Upload your DNA to see your personal genotypes for variants in H3-3A.
What This Gene Does
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded is a replication-independent member of the histone H3 family. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"H3 histones|Proteins encoded by multiple genes"
Locus Type
gene with protein product
Location
1q42.12
Ensembl
ENSG00000163041
Associated Conditions (10)
Inborn genetic diseases
Bryant-Li-Bhoj neurodevelopmental syndrome 1
H3-3A-related disorder
Neurodevelopmental disorder
Intellectual disability
Global developmental delay
Brain imaging abnormality
Delayed speech and language development
Short stature
H3F3A-related disorder
Key Variants
RS1658119267
Conflicting classifications of pathogenicity
Inborn genetic diseases, Bryant-Li-Bhoj neurodevelopmental syndrome 1, Inborn genetic diseases
Health Risk
RS1131691704
Likely pathogenic
Health Risk
RS1439403341
Likely pathogenic
Health Risk
RS1657903750
Likely pathogenic
Inborn genetic diseases, H3-3A-related disorder, Inborn genetic diseases
Health Risk
RS1657904113
Likely pathogenic
Neurodevelopmental disorder, Bryant-Li-Bhoj neurodevelopmental syndrome 1, Neurodevelopmental disorder
Health Risk
RS1658118461
Likely pathogenic
Bryant-Li-Bhoj neurodevelopmental syndrome 1, Bryant-Li-Bhoj neurodevelopmental syndrome 1
Health Risk
RS2102735477
Likely pathogenic
Health Risk
RS2102736976
Likely pathogenic
Intellectual disability, Global developmental delay, Brain imaging abnormality
Health Risk
RS2102735576
Pathogenic
Bryant-Li-Bhoj neurodevelopmental syndrome 1, Bryant-Li-Bhoj neurodevelopmental syndrome 1
Health Risk
RS2102742543
Pathogenic
Health Risk
RS2102742562
Pathogenic
Global developmental delay, Intellectual disability, Delayed speech and language development
Health Risk
RS1276519904
Pathogenic/Likely pathogenic
Inborn genetic diseases, Bryant-Li-Bhoj neurodevelopmental syndrome 1, H3F3A-related disorder
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1658119267 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Bryant-Li-Bhoj neurodevelopmental syndrome 1, Inborn genetic diseases |
| RS1131691704 | Health Risk | Likely pathogenic | — |
| RS1439403341 | Health Risk | Likely pathogenic | — |
| RS1657903750 | Health Risk | Likely pathogenic | Inborn genetic diseases, H3-3A-related disorder, Inborn genetic diseases |
| RS1657904113 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Bryant-Li-Bhoj neurodevelopmental syndrome 1, Neurodevelopmental disorder |
| RS1658118461 | Health Risk | Likely pathogenic | Bryant-Li-Bhoj neurodevelopmental syndrome 1, Bryant-Li-Bhoj neurodevelopmental syndrome 1 |
| RS2102735477 | Health Risk | Likely pathogenic | — |
| RS2102736976 | Health Risk | Likely pathogenic | Intellectual disability, Global developmental delay, Brain imaging abnormality |
| RS2102735576 | Health Risk | Pathogenic | Bryant-Li-Bhoj neurodevelopmental syndrome 1, Bryant-Li-Bhoj neurodevelopmental syndrome 1 |
| RS2102742543 | Health Risk | Pathogenic | — |
| RS2102742562 | Health Risk | Pathogenic | Global developmental delay, Intellectual disability, Delayed speech and language development |
| RS1276519904 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Bryant-Li-Bhoj neurodevelopmental syndrome 1, H3F3A-related disorder |
| RS1576203003 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Brain imaging abnormality, Global developmental delay |
| RS1657901999 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Bryant-Li-Bhoj neurodevelopmental syndrome 1, Inborn genetic diseases |
| RS1658121882 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Global developmental delay, Brain imaging abnormality |
| RS2102735801 | Health Risk | Pathogenic/Likely pathogenic | Brain imaging abnormality, Delayed speech and language development, Intellectual disability |