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Variant (rsID / SNP)

rs202043044

LOXHD1

rs202043044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LOXHD1. Location: chromosome 18, position 44,087,504. 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
18:44087504
Cytoband
18q21.1
HGVS
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=)
Allele change
Synonymous_L786L

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.