Variant (rsID / SNP)

rs78427072

rs78427072 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LOXHD1. Location: chromosome 18, position 44,104,691. Clinical significance in the table: Likely benign.

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Reference-table entries

LOXHD1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:44104691
Cytoband: 18q21.1
HGVS: NM_001384474.1(LOXHD1):c.4720G>A (p.Glu1574Lys)
Allele change: Missense_E463K

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.