Variant (rsID / SNP)

rs201555303

rs201555303 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MARS1. Location: chromosome 12, position 57,905,819. Clinical significance in the table: Pathogenic.

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Reference-table entries

MARS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:57905819
Cytoband: 12q13.3
HGVS: NM_004990.4(MARS1):c.1568T>C (p.Ile523Thr)
Allele change: Missense_I523T

Associated conditions / phenotypes

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

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.