Variant: rs1553275644 

    present in Gene: RAB3GAP2
    present in Chromosome: 1
    Position on Chromosome: 220182355
    Alleles of this Variant: C/T

rs1553275644 in RAB3GAP2 gene and Multiple congenital anomalies PMID 23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

PMID 24482476 2014 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

PMID 16532399 2006 Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.

PMID 24239381 2013 Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.

PMID 23176487 2012 RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.

PMID 20967465 2011 A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.