Variant (rsID / SNP)

rs200060292

rs200060292 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBX22. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TBX22Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq21.1
HGVS: NM_001109878.2(TBX22):c.459-5T>A
Allele change: Silent

Associated conditions / phenotypes

Abruzzo-Erickson syndrome|Cleft palate with or without ankyloglossia, X-linked

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.