Variant (rsID / SNP)

rs188517529

rs188517529 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LOXHD1. Location: chromosome 18, position 44,146,393. 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: 18:44146393
Cytoband: 18q21.1
HGVS: NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val)
Allele change: Missense_G755V

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.