Variant (rsID / SNP)

rs121909340

rs121909340 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXI1. Location: chromosome 5, position 169,535,251. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FOXI1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:169535251
Cytoband: 5q35.1
HGVS: NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu)
Allele change: Missense_G258E

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 4

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.