Variant (rsID / SNP)

rs12606417

rs12606417 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LOXHD1. Location: chromosome 18, position 44,104,437. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LOXHD1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:44104437
Cytoband: 18q21.1
HGVS: NM_001384474.1(LOXHD1):c.4868A>G (p.Glu1623Gly)
Allele change: Missense_E512G

Associated conditions / phenotypes

Autosomal recessive nonsyndromic hearing loss 77

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.