Variant (rsID / SNP)

rs182149228

rs182149228 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LOXHD1. Location: chromosome 18, position 44,057,797. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LOXHD1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:44057797
Cytoband: 18q21.1
HGVS: NM_001384474.1(LOXHD1):c.6460G>A (p.Val2154Ile)
Allele change: Missense_V1043I

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 77

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.