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Variant (rsID / SNP)

rs200249458

CHST3

rs200249458 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHST3. Location: chromosome 10, position 73,768,136. 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
10:73768136
Cytoband
10q22.1
HGVS
NM_004273.5(CHST3):c.1347C>T (p.Arg449=)
Allele change
Synonymous_R449R

Associated conditions / phenotypes

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

Public references

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