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Variant (rsID / SNP)

rs587777718

MARS1

rs587777718 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MARS1. Location: chromosome 12, position 57,906,632. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MARS1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
12:57906632
Cytoband
12q13.3
HGVS
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys)
Allele change
Missense_R618C

Associated conditions / phenotypes

Charcot-Marie-Tooth disease axonal type 2U|Charcot-Marie-Tooth disease|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Public references

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