Variant (rsID / SNP)

rs117914586

rs117914586 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MARS1. Location: chromosome 12, position 57,906,143. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MARS1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:57906143
Cytoband: 12q13.3
HGVS: NM_004990.4(MARS1):c.1753+7A>G
Allele change: Silent

Associated conditions / phenotypes

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