Variant (rsID / SNP)

rs201587138

rs201587138 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LOXHD1. Location: chromosome 18, position 44,109,190. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

LOXHD1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:44109190
Cytoband: 18q21.1
HGVS: NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
Allele change: Nonsense_R383X

Associated conditions / phenotypes

Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 77|Nonsyndromic genetic hearing loss

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.