Variant (rsID / SNP)

rs398122851

rs398122851 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRDL1. Clinical significance in the table: Pathogenic.

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Reference-table entries

CHRDL1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Cytoband: Xq23
HGVS: NM_001143981.2(CHRDL1):c.872del (p.Cys291fs)

Associated conditions / phenotypes

Megalocornea

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.