present in Gene: RAB3GAP1
present in Chromosome: 2
Position on Chromosome: 135052315
Alleles of this Variant: C/-
rs1553437083 in
RAB3GAP1 gene and
Martsolf syndrome
PMID 23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.