Variant (rsID / SNP)

rs699374

rs699374 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LTBP2. Location: chromosome 14, position 74,992,800. Clinical significance in the table: Benign.

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Reference-table entries

LTBP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:74992800
Cytoband: 14q24.3
HGVS: NM_000428.3(LTBP2):c.2406T>C (p.Thr802=)
Allele change: Synonymous_T802T

Associated conditions / phenotypes

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

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.