Variant (rsID / SNP)

rs770980206

rs770980206 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AARS1. Location: chromosome 16, position 70,289,700. Clinical significance in the table: Likely benign.

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Reference-table entries

AARS1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:70289700
Cytoband: 16q22.1
HGVS: NM_001605.3(AARS1):c.2217C>T (p.Ile739=)
Allele change: Synonymous_I739I

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease axonal type 2N

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.