Gene
AHDC1
AT-hook DNA binding motif containing 1
- HGNC 25230(opens in a new tab)
- Ensembl gene ENSG00000126705(opens in a new tab)
- NCBI Gene 27245(opens in a new tab)
Summary
- Cytogenetic location
- 1p36.11-p35.3
- Coordinates
- Chromosome 1: 27,534,245–27,604,144 (GRCh38)
- Exons
- 9 exons across 69.9 kb
- Protein
- 1,603 amino acids
- Also known as
- DJ159A19.3, RP1-159A19.1
- MANE Select transcript
- ENST00000673934.1NM_001371928.1
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read AHDC1, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated report relevant to this gene
Intellectual Disability
One of 233 genes linked to it
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
How AHDC1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6.4 kb of the gene's 69.9 kb; 4,812 of those bases code for the protein.
How a genome test reads AHDC1
75
positions in AHDC1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 69.9 kb of AHDC1, introns included, not only the 6.4 kb of exons.
Traits linked to AHDC1
The Human Phenotype Ontology lists these as features of the rare conditions AHDC1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal corpus callosum morphology
- Abnormal gait
- Babinski sign
- Bilateral tonic-clonic seizure with focal onset
- Degeneration of cerebrum
- Delayed ability to stand
- Delayed speech and language development
- Difficulty sleeping
Show 53 more traits
- EEG abnormality
- Frontal cortical atrophy
- Global developmental delay
- Grand mal seizures
- Intellectual disability
- Jerking
- Loss of developmental milestones
- More active than typical
- Motor delay
- Poor speech
- Slow movements
- Temporal cortical atrophy
- Wide based walk
- Delayed ability to sit
- Delayed ability to walk
- Obstructive sleep apnea
- Abnormal shape of brain
- Absent speech development
- Aggressive behavior
- Anxiety
- Ataxia
- Autism
- Autism spectrum disorder
- Communication delay
- Delayed CNS myelination
- Epilepsy
- Impulsivity
- Inability to coordinate movements when walking
- Intellectual disability, severe
- IQ between 34 and 49
- Pauses in breathing while sleeping
- Reduced cerebral white matter volume
- Self-injurious behavior
- Simplified gyral pattern
- Snoring
- Thin corpus callosum
- Underdevelopment of part of brain called corpus callosum
- Ventriculomegaly
- Agenesis of corpus callosum
- Cerebral hypomyelination
- Delayed myelination
- Extra-axial cerebrospinal fluid accumulation
- Fluid-filled sac located in membrane surrounding brain or spinal cord
- Focal emotional seizure with laughing
- Intellectual disability, mild
- Periventricular leukomalacia
- Retrocerebellar cyst
- Seizure affecting one half of brain
- Small brainstem
- Subcortical U fiber lesion
- Subependymal cysts
- Teeth grinding
- Cerebral palsy
Abnormality of head or neck
- Abnormality of the head
- Bicoronal synostosis
- Chewing difficulties
- Coronal craniosynostosis
- Decrease in jaw mobility
- Enlarged cisterna magna
- Eye folds
- High forehead
Show 44 more traits
- Lambdoidal craniosynostosis
- Long, narrow head
- Narrow eyelid opening
- Wide mouth
- Abnormal facial shape
- Abnormally small head
- Asymmetry of the posterior head
- Big calvaria
- Broad forehead
- Broad nasal tip
- Depressed nasal bridge
- High palate
- Horizontal eyebrow
- Little lower jaw
- Long philtrum
- Monobrow
- Nasal tip, upturned
- Relatively large head
- Short columella
- Smooth philtrum
- Thin red part of the upper lip
- Underdeveloped tissue around nostril
- Upward slanting of the opening between the eyelids
- Widely spaced teeth
- Almond shaped eyes
- Broad head shape
- Broad opening between the eyelids
- Broad philtrum
- Cleft palate
- Coarse facial features
- Deformity of the skull
- Downward slanting of the opening between the eyelids
- Drooping lower lip
- Early closure of midline skull joint
- Frontal bossing
- Low hanging columella
- Narrow forehead
- Narrow mouth
- Short chin
- Short neck
- Short philtrum
- Submucous cleft palate
- Tented mouth
- Wide nasal bridge
Abnormality of the ear
- Abnormality of the cochlear nerve
- Chronic infections of the middle ear
- Hearing impairment
- Low-set ears
- Cupped ear
- Overfolded ears
- Prominent ear
- Simple ear
Show 3 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). AHDC1 gene: AT-hook DNA binding motif containing 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/ahdc1
Dante Labs. AHDC1 gene: AT-hook DNA binding motif containing 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ahdc1
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks