Variant (rsID / SNP)

rs12267478

rs12267478 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHST3. Location: chromosome 10, position 73,772,570. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CHST3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:73772570
Cytoband: 10q22.1
HGVS: NM_004273.5(CHST3):c.*4341C>A
Allele change: Silent

Associated conditions / phenotypes

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