Variant (rsID / SNP)

rs587777213

rs587777213 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to YARS2. Location: chromosome 12, position 32,908,672. Clinical significance in the table: Pathogenic.

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Reference-table entries

YARS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:32908672
Cytoband: 12p11.21
HGVS: NM_001040436.3(YARS2):c.137G>A (p.Gly46Asp)
Allele change: Missense_G46D

Associated conditions / phenotypes

Myopathy, lactic acidosis, and sideroblastic anemia 2

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.