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Variant (rsID / SNP)

rs75845750

CHST3

rs75845750 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHST3. Location: chromosome 10, position 73,768,217. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CHST3Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
10:73768217
Cytoband
10q22.1
HGVS
NM_004273.5(CHST3):c.1428C>T (p.Phe476=)
Allele change
Synonymous_F476F

Associated conditions / phenotypes

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

Public references

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