Variant (rsID / SNP)

rs373937326

rs373937326 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LOXHD1. Location: chromosome 18, position 44,114,411. Clinical significance in the table: Pathogenic.

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Reference-table entries

LOXHD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:44114411
Cytoband: 18q21.1
HGVS: NM_001384474.1(LOXHD1):c.4099G>T (p.Glu1367Ter)
Allele change: Nonsense_E256X

Associated conditions / phenotypes

Rare genetic deafness|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.