Variant (rsID / SNP)

rs10501429

rs10501429 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NARS2. Location: chromosome 11, position 78,279,790. Clinical significance in the table: Benign.

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Reference-table entries

NARS2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:78279790
Cytoband: 11q14.1
HGVS: NM_024678.6(NARS2):c.260A>C (p.Asn87Thr)
Allele change: Silent

Associated conditions / phenotypes

Combined oxidative phosphorylation defect type 24|Hearing loss, autosomal recessive 94

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.