Variant (rsID / SNP)

rs598126

rs598126 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COASY. Location: chromosome 17, position 40,716,520. Clinical significance in the table: Benign.

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Reference-table entries

COASYBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:40716520
Cytoband: 17q21.2
HGVS: NM_025233.7(COASY):c.972A>G (p.Thr324=)
Allele change: Synonymous_T324T

Associated conditions / phenotypes

Pontocerebellar hypoplasia, type 12|Neurodegeneration with brain iron accumulation 6

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.