Gene entry
SPATA5
AAA ATPase AFG2A
- Chromosome
- 4
- Cytoband
- 4q28.1
- Variants (rsID)
- 53
SPATA5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4q28.1). Its official name is “AAA ATPase AFG2A”. The reference table lists 53 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs1472949Benignsingle nucleotide variantMicrocephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- rs55643281Benignsingle nucleotide variantMicrocephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- rs149688478Pathogenicsingle nucleotide variantMicrocephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Other listed variants
- rs303084
- rs303100
- rs303108
- rs304653
- rs304654
- rs412925
- rs417366
- rs906833
- rs991183
- rs2063293
- rs2561151
- rs6534370
- rs6832894
- rs7679580
- rs7684162
- rs11940736
- rs12650569
- rs13124732
- rs13126167
- rs62324566
- rs72674972
- rs72677133
- rs72677198
- rs72677201
- rs72678999
- rs72682704
- rs73845079
- rs75129464
- rs75178206
- rs75308672
- rs75635742
- rs75636052
- rs76092860
- rs76164326
- rs77120439
- rs78189550
- rs78607114
- rs79057463
- rs79114941
- rs79229437
- rs79238899
- rs79718198
- rs114644027
- rs115203658
- rs115672929
- rs117872653
- rs117898954
- rs143078819
- rs146417810
- rs150598970
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.