present in Gene: LMOD1
present in Chromosome: 1
Position on Chromosome: 201899905
Alleles of this Variant: G/A;C
rs777696417 in
LMOD1 gene and
Abnormality of the bladder
PMID 28292896 2017 Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
rs777696417 in
LMOD1 gene and
Fetal megacystis
PMID 28292896 2017 Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
rs777696417 in
LMOD1 gene and
Microcolon
PMID 28292896 2017 Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
rs777696417 in
LMOD1 gene and
Visceral Myopathy
PMID 28292896 2017 Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.