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Variant (rsID / SNP)

rs192376005

LOXHD1

rs192376005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LOXHD1. Location: chromosome 18, position 44,171,980. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LOXHD1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:44171980
Cytoband
18q21.1
HGVS
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
Allele change
Missense_R524C

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 77

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.