Variant (rsID / SNP)

rs115649165

rs115649165 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ILDR1. Location: chromosome 3, position 121,720,630. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ILDR1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:121720630
Cytoband: 3q13.33
HGVS: NM_001199799.2(ILDR1):c.461C>T (p.Ser154Leu)
Allele change: Silent

Associated conditions / phenotypes

Hearing impairment

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.