AHDC1 Chromosome 1
AT-hook DNA binding motif containing 1
Upload your DNA to see your personal genotypes for variants in AHDC1.
What This Gene Does
This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]
Associated Conditions (17)
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Inborn genetic diseases
AHDC1-related disorder
Neurodevelopmental abnormality
Intellectual disability
Neurodevelopmental delay
See cases
Neurodevelopmental disorder
Sleep apnea
Neonatal hypotonia
Delayed speech and language development
Global developmental delay
Hypotonia
Cerebral visual impairment and intellectual disability
Cerebellar vermis hypoplasia
Congenital cerebellar hypoplasia
Abdominal obesity-metabolic syndrome 3
Key Variants
RS1032556769
Conflicting classifications of pathogenicity
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Health Risk
RS1174482121
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1227039585
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1264371529
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1276300681
Conflicting classifications of pathogenicity
Health Risk
RS1337874441
Conflicting classifications of pathogenicity
Health Risk
RS1355731397
Conflicting classifications of pathogenicity
Health Risk
RS1357808992
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1368457816
Conflicting classifications of pathogenicity
Health Risk
RS138299564
Conflicting classifications of pathogenicity
Health Risk
RS1387093211
Conflicting classifications of pathogenicity
Health Risk
RS139975681
Conflicting classifications of pathogenicity
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Inborn genetic diseases, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Health Risk
All Variants (222)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2522002760 | Health Risk | Pathogenic | — |
| RS2522009301 | Health Risk | Pathogenic | — |
| RS2522029781 | Health Risk | Pathogenic | — |
| RS2522064270 | Health Risk | Pathogenic | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome |
| RS587779766 | Health Risk | Pathogenic | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Sleep apnea, Neonatal hypotonia |
| RS587779767 | Health Risk | Pathogenic | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Sleep apnea, Neonatal hypotonia |
| RS587779768 | Health Risk | Pathogenic | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Sleep apnea, Neonatal hypotonia |
| RS751165635 | Health Risk | Pathogenic | — |
| RS796065040 | Health Risk | Pathogenic | — |
| RS796065041 | Health Risk | Pathogenic | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome |
| RS796065042 | Health Risk | Pathogenic | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome |
| RS796065043 | Health Risk | Pathogenic | — |
| RS869312858 | Health Risk | Pathogenic | Cerebral visual impairment and intellectual disability, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Cerebral visual impairment and intellectual disability |
| RS886039900 | Health Risk | Pathogenic | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome |
| RS886041620 | Health Risk | Pathogenic | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome |
| RS886041676 | Health Risk | Pathogenic | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome |
| RS886041781 | Health Risk | Pathogenic | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome |
| RS886041920 | Health Risk | Pathogenic | — |
| RS1557667078 | Health Risk | Pathogenic/Likely pathogenic | AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Cerebellar vermis hypoplasia, Congenital cerebellar hypoplasia |
| RS2019490062 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Inborn genetic diseases |
| RS749294057 | Health Risk | Pathogenic/Likely pathogenic | See cases, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome |
| RS777736953 | Health Risk | Pathogenic/Likely pathogenic | Abdominal obesity-metabolic syndrome 3, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Abdominal obesity-metabolic syndrome 3 |