Variant (rsID / SNP)

rs145384892

rs145384892 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHST3. Location: chromosome 10, position 73,767,949. Clinical significance in the table: Benign.

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Reference-table entries

CHST3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:73767949
Cytoband: 10q22.1
HGVS: NM_004273.5(CHST3):c.1160G>A (p.Arg387His)
Allele change: Missense_R387H

Associated conditions / phenotypes

Spondyloepiphyseal dysplasia with congenital joint dislocations

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.