Variant (rsID / SNP)

rs11800305

rs11800305 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IARS2, RNU5F-1. Location: chromosome 1, position 220,287,740. Clinical significance in the table: Benign.

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Reference-table entries

IARS2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:220287740
Cytoband: 1q41
HGVS: NM_018060.4(IARS2):c.1564A>G (p.Ile522Val)
Allele change: Silent

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.