Variant (rsID / SNP)

rs148076109

rs148076109 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP63. Location: chromosome 3, position 189,607,152. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TP63Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:189607152
Cytoband: 3q28
HGVS: NM_003722.5(TP63):c.1531C>A (p.Pro511Thr)
Allele change: Missense_P509T

Associated conditions / phenotypes

Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3|TP63-Related Spectrum Disorders|Orofacial cleft 8

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.