Variant (rsID / SNP)

rs77706750

rs77706750 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LOXL3. Location: chromosome 2, position 74,763,247. Clinical significance in the table: Benign.

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Reference-table entries

LOXL3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:74763247
Cytoband: 2p13.1
HGVS: NM_032603.5(LOXL3):c.1124G>A (p.Arg375His)
Allele change: Missense_R230H

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.