Variant (rsID / SNP)

rs115959445

rs115959445 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to YARS1. Location: chromosome 1, position 33,283,287. Clinical significance in the table: Benign.

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Reference-table entries

YARS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:33283287
Cytoband: 1p35.1
HGVS: NM_022753.4(S100PBP):c.-123G>A
Allele change: Silent

Associated conditions / phenotypes

Charcot-Marie-Tooth disease dominant intermediate C

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.