Variant (rsID / SNP)

rs35252424

rs35252424 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TACO1. Location: chromosome 17, position 61,683,718. Clinical significance in the table: Benign.

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Reference-table entries

TACO1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:61683718
Cytoband: 17q23.3
HGVS: NM_016360.4(TACO1):c.433G>A (p.Gly145Ser)
Allele change: Missense_G145S

Associated conditions / phenotypes

Cytochrome-c oxidase deficiency disease

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.