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GeneBe

ATXN8OS

ATXN8 opposite strand lncRNA, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Previous symbols: [ "SCA8", "KLHL1AS" ]

Links

ENSG00000230223NCBI:6315OMIM:603680HGNC:10561Uniprot:P0DMR3AlphaFoldGenCCjaxSfariGnomADPubmed

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Spinocerebellar ataxia 8ADGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingNeurologic; Ophthalmologic10192387; 14756671; 16804541; 19680539; 20301445; 20403608
The causative expansion variant is located in both the ATXN8OS 3' UTR and a polyglutamine ORF in ATXN8

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ATXN8OS gene.

  • Inborn genetic diseases (4 variants)
  • not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ATXN8OS gene is commonly pathogenic or not.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous 0
missense 0
nonsense 0
start loss 0
frameshift 0
inframe indel 0
splice variant 0
non coding 4 1 1 6
Total 0 0 4 1 1

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

Biological process
Cellular component
cytoplasm
Molecular function