Variant (rsID / SNP)

rs7072219

rs7072219 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHST3. Location: chromosome 10, position 73,770,355. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CHST3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:73770355
Cytoband: 10q22.1
HGVS: NM_004273.5(CHST3):c.*2126A>C
Allele change: Silent

Associated conditions / phenotypes

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

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.