Variant (rsID / SNP)

rs147076980

rs147076980 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to QARS1. Location: chromosome 3, position 49,137,443. Clinical significance in the table: Uncertain significance.

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Reference-table entries

QARS1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:49137443
Cytoband: 3p21.31
HGVS: NM_005051.3(QARS1):c.1246G>A (p.Val416Ile)
Allele change: Silent

Associated conditions / phenotypes

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

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.