H1-4 Chromosome 6
H1.4 linker histone, cluster member
Upload your DNA to see your personal genotypes for variants in H1-4.
What This Gene Does
Histones are basic nuclear proteins responsible for 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 is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
H1 histones
Locus Type
gene with protein product
Location
6p22.2
Ensembl
ENSG00000168298
Associated Conditions (12)
Rahman syndrome
Inborn genetic diseases
Hypertrophic cardiomyopathy
Dilated cardiomyopathy 1S
Cardiovascular phenotype
Hypertrophic cardiomyopathy 1
Multiple myeloma
Pitt-Hopkins syndrome
Auditory neuropathy spectrum disorder
H1-4-related disorder
HIST1H1E-related neurodevelopmental disorder with multiple anomalies
Neurodevelopmental disorder
Key Variants
RS1273963446
Conflicting classifications of pathogenicity
Health Risk
RS1581429395
Conflicting classifications of pathogenicity
Rahman syndrome, Inborn genetic diseases, Rahman syndrome
Health Risk
RS369184031
Conflicting classifications of pathogenicity
Health Risk
RS1131690805
Likely pathogenic
Inborn genetic diseases, Rahman syndrome, Rahman syndrome
Health Risk
RS1554162761
Likely pathogenic
Health Risk
RS1764189332
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS730880759
Likely pathogenic
Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1S, Cardiovascular phenotype
Health Risk
RS951047896
Likely pathogenic
Multiple myeloma, Multiple myeloma
Health Risk
RS1131690806
Pathogenic
Rahman syndrome, Pitt-Hopkins syndrome, Auditory neuropathy spectrum disorder
Health Risk
RS1131690807
Pathogenic
Rahman syndrome, Rahman syndrome
Health Risk
RS1208228105
Pathogenic
Rahman syndrome, Rahman syndrome
Health Risk
RS1554162872
Pathogenic
Rahman syndrome, Rahman syndrome
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1273963446 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1581429395 | Health Risk | Conflicting classifications of pathogenicity | Rahman syndrome, Inborn genetic diseases, Rahman syndrome |
| RS369184031 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1131690805 | Health Risk | Likely pathogenic | Inborn genetic diseases, Rahman syndrome, Rahman syndrome |
| RS1554162761 | Health Risk | Likely pathogenic | — |
| RS1764189332 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS730880759 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1S, Cardiovascular phenotype |
| RS951047896 | Health Risk | Likely pathogenic | Multiple myeloma, Multiple myeloma |
| RS1131690806 | Health Risk | Pathogenic | Rahman syndrome, Pitt-Hopkins syndrome, Auditory neuropathy spectrum disorder |
| RS1131690807 | Health Risk | Pathogenic | Rahman syndrome, Rahman syndrome |
| RS1208228105 | Health Risk | Pathogenic | Rahman syndrome, Rahman syndrome |
| RS1554162872 | Health Risk | Pathogenic | Rahman syndrome, Rahman syndrome |
| RS1554162894 | Health Risk | Pathogenic | Rahman syndrome, Rahman syndrome |
| RS1581429339 | Health Risk | Pathogenic | — |
| RS1581429431 | Health Risk | Pathogenic | Rahman syndrome, Rahman syndrome |
| RS1581429434 | Health Risk | Pathogenic | Rahman syndrome, Rahman syndrome |
| RS1581429447 | Health Risk | Pathogenic | — |
| RS1581429485 | Health Risk | Pathogenic | — |
| RS1581429514 | Health Risk | Pathogenic | Rahman syndrome, Rahman syndrome |
| RS1764194450 | Health Risk | Pathogenic | Rahman syndrome, Rahman syndrome |
| RS1764194669 | Health Risk | Pathogenic | Rahman syndrome, Rahman syndrome |
| RS2113826875 | Health Risk | Pathogenic | Rahman syndrome, Rahman syndrome |
| RS2113826976 | Health Risk | Pathogenic | Rahman syndrome, Rahman syndrome |
| RS2113827110 | Health Risk | Pathogenic | — |
| RS2480693529 | Health Risk | Pathogenic | Rahman syndrome, Rahman syndrome |
| RS2480693538 | Health Risk | Pathogenic | Rahman syndrome, Rahman syndrome |
| RS2480693817 | Health Risk | Pathogenic | — |
| RS2480693825 | Health Risk | Pathogenic | H1-4-related disorder, H1-4-related disorder |
| RS768525914 | Health Risk | Pathogenic | Rahman syndrome, HIST1H1E-related neurodevelopmental disorder with multiple anomalies, Rahman syndrome |
| RS1581429403 | Health Risk | Pathogenic/Likely pathogenic | Rahman syndrome, Inborn genetic diseases, Rahman syndrome |
| RS1581429554 | Health Risk | Pathogenic/Likely pathogenic | Rahman syndrome, Neurodevelopmental disorder, Rahman syndrome |