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Variant (rsID / SNP)

rs62621067

QARS1

rs62621067 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to QARS1. Location: chromosome 3, position 49,142,142. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

QARS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:49142142
Cytoband
3p21.31
HGVS
NM_005051.3(QARS1):c.25C>A (p.Leu9Ile)
Allele change
Silent

Associated conditions / phenotypes

Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome

Public references

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