Variant (rsID / SNP)

rs137854857

rs137854857 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LTBP2. Location: chromosome 14, position 75,017,900. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LTBP2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:75017900
Cytoband: 14q24.3
HGVS: NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile)
Allele change: Missense_S518I

Associated conditions / phenotypes

Ectopia lentis 1, isolated, autosomal dominant|Weill-Marchesani syndrome|Glaucoma 3, primary congenital, D

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.