Variant (rsID / SNP)

rs200961740

rs200961740 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DARS1. Location: chromosome 2, position 136,681,962. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DARS1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:136681962
Cytoband: 2q21.3
HGVS: NM_001349.4(DARS1):c.671T>C (p.Ile224Thr)
Allele change: Missense_I124T

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.