Variant (rsID / SNP)

rs121908840

rs121908840 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP63. Location: chromosome 3, position 189,585,692. Clinical significance in the table: Pathogenic.

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Reference-table entries

TP63Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:189585692
Cytoband: 3q28
HGVS: NM_003722.5(TP63):c.953G>A (p.Arg318His)
Allele change: Missense_R316H

Associated conditions / phenotypes

Rapp-Hodgkin ectodermal dysplasia syndrome|Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3|TP63-Related Spectrum Disorders

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.