Gene entry
ANKRD11
ankyrin repeat domain 11
- Chromosome
- 16
- Cytoband
- 16q24.3
- Variants (rsID)
- 49
ANKRD11 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16q24.3). Its official name is “ankyrin repeat domain 11”. The reference table lists 49 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs117997391Benignsingle nucleotide variantAutism spectrum disorder|KBG syndrome
- rs144947610Benignsingle nucleotide variantAutism spectrum disorder|Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis|KBG syndrome
- rs147744268Benignsingle nucleotide variantAutism spectrum disorder|KBG syndrome
- rs202034147Benignsingle nucleotide variantAutism spectrum disorder|KBG syndrome
- rs199800166Conflicting interpretationssingle nucleotide variantKBG syndrome|Autism spectrum disorder
- rs202142344Conflicting interpretationssingle nucleotide variantAutism spectrum disorder|Intellectual disability|KBG syndrome
- rs797045027PathogenicDeletionKBG syndrome|Rare genetic intellectual disability|Inborn genetic diseases|Global developmental delay
- rs886039734PathogenicMicrosatelliteKBG syndrome
- rs886041791Pathogenicsingle nucleotide variantInborn genetic diseases|KBG syndrome
Other listed variants
- rs889574
- rs889576
- rs2086824
- rs2353030
- rs2965946
- rs3102347
- rs3102356
- rs3102357
- rs3114888
- rs3114896
- rs3114912
- rs4785670
- rs6416798
- rs6500544
- rs7192878
- rs16964680
- rs16965550
- rs16965692
- rs35657869
- rs55660259
- rs57552990
- rs71396920
- rs72803334
- rs74829481
- rs76728532
- rs78912890
- rs111774585
- rs112043543
- rs116999413
- rs117158547
- rs117442689
- rs118074249
- rs118123493
- rs139366241
- rs143317508
- rs146537942
- rs146953871
- rs148317216
- rs148398947
- rs186068075
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.