Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs533251927

LOXHD1

rs533251927 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LOXHD1. Location: chromosome 18, position 44,118,278. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

LOXHD1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:44118278
Cytoband
18q21.1
HGVS
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=)
Allele change
Synonymous_L201L

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.