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Variant (rsID / SNP)

rs144287889

CHST3

rs144287889 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHST3. Location: chromosome 10, position 73,767,206. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CHST3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:73767206
Cytoband
10q22.1
HGVS
NM_004273.5(CHST3):c.417C>T (p.Ala139=)
Allele change
Synonymous_A139A

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.