Variant (rsID / SNP)

rs143592405

rs143592405 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MARS1. Location: chromosome 12, position 57,906,083. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

MARS1Other

Clinical significance (as recorded): no interpretation for the single variant
Variant type: single nucleotide variant
Chromosome / position: 12:57906083
Cytoband: 12q13.3
HGVS: NM_004990.4(MARS1):c.1700C>T (p.Ser567Leu)
Allele change: Missense_S567L

Associated conditions / phenotypes

Interstitial Lung and Liver Disease

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.