Variant (rsID / SNP)

rs244903

rs244903 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RARS1. Location: chromosome 5, position 167,913,510. Clinical significance in the table: Benign.

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Reference-table entries

RARS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:167913510
Cytoband: 5q34
HGVS: NM_002887.4(RARS1):c.7G>A (p.Val3Ile)
Allele change: Missense_V3I

Associated conditions / phenotypes

Hypomyelinating leukodystrophy 9

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.