Variant (rsID / SNP)

rs180760483

rs180760483 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RARS1. Location: chromosome 5, position 167,937,653. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RARS1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 5:167937653
Cytoband: 5q34
HGVS: NM_002887.4(RARS1):c.1414C>T (p.Arg472Ter)
Allele change: Nonsense_R472X

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.