Variant (rsID / SNP)
rs121908841
rs121908841 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP63. Location: chromosome 3, position 189,586,404. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
TP63Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:189586404
- Cytoband
- 3q28
- HGVS
- NM_003722.5(TP63):c.1028G>A (p.Arg343Gln)
- Allele change
- Missense_R341Q
Associated conditions / phenotypes
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3|TP63-Related Spectrum Disorders|Inborn genetic diseases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.