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Gene entry

AHDC1

AT-hook DNA binding motif containing 1

Chromosome
1
Cytoband
1p36.11-p35.3
Variants (rsID)
20

AHDC1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.11-p35.3). Its official name is “AT-hook DNA binding motif containing 1”. The reference table lists 20 variants (rsID) for this gene.

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Clinically classified variants

7 reference-table entries with clinical significance.

  • rs143346525Benignsingle nucleotide variantAHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
  • rs147276945Benignsingle nucleotide variantAHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
  • rs181285619Benignsingle nucleotide variantAHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
  • rs138299564Conflicting interpretationssingle nucleotide variant
  • rs201595662Conflicting interpretationssingle nucleotide variant
  • rs587779766PathogenicMicrosatelliteAHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome|Delayed speech and language development|Neonatal hypotonia|Global developmental delay|Sleep apnea|Intellectual disability|Delayed speech and language development|Sleep apnea|Hypotonia
  • rs587779767PathogenicDeletionAHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome|Delayed speech and language development|Neonatal hypotonia|Global developmental delay|Sleep apnea|Intellectual disability|Delayed speech and language development|Sleep apnea|Hypotonia

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.