Variant: rs121908840 

    present in Gene: TP63
    present in Chromosome: 3
    Position on Chromosome: 189867903
    Alleles of this Variant: G/A

rs121908840 in TP63 gene and ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 PMID 12838557 2003 EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma.

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

PMID 10839977 2000 Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

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

rs121908840 in TP63 gene and RAPP-HODGKIN SYNDROME PMID 12939657 2003 The Rapp-Hodgkin syndrome results from mutations of the TP63 gene.

PMID 15200513 2004 Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder.

PMID 12766194 2003 Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia.