Variant (rsID / SNP)

rs181958589

rs181958589 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AGBL1. Location: chromosome 15, position 87,217,553. Clinical significance in the table: Pathogenic.

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Reference-table entries

AGBL1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:87217553
Cytoband: 15q25.3
HGVS: NM_001386094.1(AGBL1):c.3044G>C (p.Cys1015Ser)
Allele change: Missense_C1036S

Associated conditions / phenotypes

Corneal dystrophy, Fuchs endothelial, 8

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.