Variant (rsID / SNP)

rs201591982

rs201591982 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LTBP2. Location: chromosome 14, position 74,989,495. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LTBP2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:74989495
Cytoband: 14q24.3
HGVS: NM_000428.3(LTBP2):c.2657C>A (p.Thr886Lys)
Allele change: Missense_T886K

Associated conditions / phenotypes

Glaucoma 3, primary congenital, D|Weill-Marchesani syndrome

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.