Variant (rsID / SNP)

rs41303129

rs41303129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COQ8A. Location: chromosome 1, position 227,170,648. Clinical significance in the table: Benign.

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Reference-table entries

COQ8ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:227170648
Cytoband: 1q42.13
HGVS: NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
Allele change: Synonymous_F331F

Associated conditions / phenotypes

Autosomal recessive ataxia due to ubiquinone deficiency|Joubert syndrome 17

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.