Variant (rsID / SNP)

rs2877561

rs2877561 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ILDR1. Location: chromosome 3, position 121,712,051. Clinical significance in the table: Benign.

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Reference-table entries

ILDR1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:121712051
Cytoband: 3q13.33
HGVS: NM_001199799.2(ILDR1):c.1545T>G (p.Leu515=)
Allele change: Synonymous_L426L

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 42

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.