Variant (rsID / SNP)

rs147114577

rs147114577 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OFD1, TRAPPC2. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

OFD1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp22.2
HGVS: NM_003611.3(OFD1):c.54A>G (p.Glu18=)
Allele change: Synonymous_E18E

Associated conditions / phenotypes

Joubert syndrome|Orofaciodigital syndrome I

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.