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Variant (rsID / SNP)

rs141522501

DARS1

rs141522501 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DARS1. Location: chromosome 2, position 136,682,043. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DARS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:136682043
Cytoband
2q21.3
HGVS
NM_001349.4(DARS1):c.590G>A (p.Arg197His)
Allele change
Missense_R97H

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.