Variant (rsID / SNP)

rs10751296

rs10751296 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NARS2. Location: chromosome 11, position 78,277,277. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NARS2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:78277277
Cytoband: 11q14.1
HGVS: NM_024678.6(NARS2):c.414T>C (p.Tyr138=)
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.