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Variant (rsID / SNP)

rs188119157

LOXHD1

rs188119157 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LOXHD1. Location: chromosome 18, position 44,143,129. 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
18:44143129
Cytoband
18q21.1
HGVS
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter)
Allele change
Synonymous_R833R

Associated conditions / phenotypes

Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 77|Hearing impairment

Public references

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