Variant (rsID / SNP)

rs28937879

rs28937879 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHST6. Location: chromosome 16, position 75,513,128. Clinical significance in the table: Pathogenic.

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Reference-table entries

CHST6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:75513128
Cytoband: 16q23.1
HGVS: NM_021615.5(CHST6):c.599T>G (p.Leu200Arg)
Allele change: Missense_L200R

Associated conditions / phenotypes

Macular corneal dystrophy, type II|Macular corneal dystrophy

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.