Variant: rs1205536026 

    present in Gene: TP63
    present in Chromosome: 3
    Position on Chromosome: 189867902
    Alleles of this Variant: C/T

rs1205536026 in TP63 gene and ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 PMID 10839977 2000 Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

PMID 12838557 2003 EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma.

PMID 11462173 2001 p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

PMID 10535733 1999 Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.