Variant (rsID / SNP)

rs104894946

rs104894946 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBX22. Clinical significance in the table: Pathogenic.

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Reference-table entries

TBX22Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq21.1
HGVS: NM_001109878.2(TBX22):c.641T>C (p.Leu214Pro)
Allele change: Missense_L214P

Associated conditions / phenotypes

Cleft palate with ankyloglossia

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.