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Variant (rsID / SNP)

rs147630375

YARS2

rs147630375 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to YARS2. Location: chromosome 12, position 32,908,274. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

YARS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:32908274
Cytoband
12p11.21
HGVS
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln)
Allele change
Missense_K179Q

Associated conditions / phenotypes

Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis|Myopathy, lactic acidosis, and sideroblastic anemia 2

Public references

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