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Variant (rsID / SNP)

rs148468627

LOXHD1

rs148468627 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LOXHD1. Location: chromosome 18, position 44,057,658. 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
18:44057658
Cytoband
18q21.1
HGVS
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln)
Allele change
Missense_R1089Q

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.