Gene entry
ASXL3
ASXL transcriptional regulator 3
- Chromosome
- 18
- Cytoband
- 18q12.1
- Variants (rsID)
- 44
ASXL3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 18 (region 18q12.1). Its official name is “ASXL transcriptional regulator 3”. The reference table lists 44 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs143578678Benignsingle nucleotide variantSevere feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
- rs144534810Benignsingle nucleotide variantSevere feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
- rs185753602Benignsingle nucleotide variantSevere feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
- rs189786599Conflicting interpretationssingle nucleotide variant
- rs868044680Conflicting interpretationssingle nucleotide variantSevere feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
- rs200723688Likely benignsingle nucleotide variant
- rs797045317PathogenicMicrosatelliteSevere feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Other listed variants
- rs726147
- rs1941691
- rs2032187
- rs4799350
- rs4799355
- rs4799717
- rs7227389
- rs7234013
- rs8084438
- rs8086676
- rs9807787
- rs12454561
- rs16964882
- rs17554098
- rs17746949
- rs59839063
- rs61995734
- rs62090632
- rs72961957
- rs72961990
- rs73424729
- rs75925401
- rs80007932
- rs112932330
- rs116363417
- rs117646166
- rs117661115
- rs117717683
- rs142418477
- rs147624117
- rs151081332
- rs183808969
- rs187632583
- rs190401191
- rs200441915
- rs201872027
- rs202041409
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.