Variant (rsID / SNP)

rs312262894

rs312262894 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OFD1. Clinical significance in the table: Pathogenic.

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Reference-table entries

OFD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Cytoband: Xp22.2
HGVS: NM_003611.3(OFD1):c.2767del (p.Glu923fs)

Associated conditions / phenotypes

Joubert syndrome 10

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.