Variant: rs121908838

present in Gene: TP63 present in Chromosome: 3 Position on Chromosome: 189864349 Alleles of this Variant: A/G

rs121908838 in TP63 gene and SPLIT-HAND/FOOT MALFORMATION 4 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 10839977 2000 Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.