Variant (rsID / SNP)

rs116508900

rs116508900 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHST3. Location: chromosome 10, position 73,768,503. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CHST3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:73768503
Cytoband: 10q22.1
HGVS: NM_004273.5(CHST3):c.*274C>T
Allele change: Silent

Associated conditions / phenotypes

Spondyloepiphyseal dysplasia congenita|Skeletal dysplasia|Spondyloepiphyseal dysplasia with congenital joint dislocations|Larsen 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.