present in Gene: NIPBL
present in Chromosome: 5
Position on Chromosome: 37052453
Alleles of this Variant: C/T
rs1057516034 in
NIPBL gene and
Cornelia de Lange Syndrome 1
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1057516034 in
NIPBL gene and
Hirsutism
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1057516034 in
NIPBL gene and
Microcephaly (physical finding)
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1057516034 in
NIPBL gene and
Short stature
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1057516034 in
NIPBL gene and
Synophrys
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.