Variant (rsID / SNP)

rs5030752

rs5030752 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPRS1, RNU5F-1. Location: chromosome 1, position 220,156,704. The table records no clinical significance for this variant.

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Reference-table entries

EPRS1Not classified

Variant type: missense_variant
Chromosome / position: 1:220156704
HGVS: NM_004446.3,c.3127A>G,p.Ile1043Val
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.