present in Gene: SMG9
present in Chromosome: 19
Position on Chromosome: 43747509
Alleles of this Variant: GG/-
rs869312741 in
SMG9 gene and
Abnormality of cardiovascular system morphology
PMID 27018474 2016 Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.
rs869312741 in
SMG9 gene and
Brainstem dysplasia
PMID 27018474 2016 Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.
rs869312741 in
SMG9 gene and
Dysmorphic facies
PMID 27018474 2016 Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.
rs869312741 in
SMG9 gene and
Global developmental delay
PMID 27018474 2016 Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.