Variant (rsID / SNP)

rs267607180

rs267607180 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to YARS2. Location: chromosome 12, position 32,908,653. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

YARS2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:32908653
Cytoband: 12p11.21
HGVS: NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu)
Allele change: Missense_F52L

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.