Variant: rs587777695 

    present in Gene: ZSWIM6
    present in Chromosome: 5
    Position on Chromosome: 61544156
    Alleles of this Variant: C/T

rs587777695 in ZSWIM6 gene and ACROMELIC FRONTONASAL DYSOSTOSIS PMID 26706854 2016 Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.

PMID 25105228 2014 Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.

rs587777695 in ZSWIM6 gene and Dysmorphic features PMID 25105228 2014 Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.

PMID 26706854 2016 Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.

PMID 29198722 2017 A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

rs587777695 in ZSWIM6 gene and Multiple congenital anomalies PMID 29198722 2017 A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

PMID 26706854 2016 Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.

PMID 25105228 2014 Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.

rs587777695 in ZSWIM6 gene and Muscle hypotonia PMID 25105228 2014 Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.

PMID 29198722 2017 A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

PMID 26706854 2016 Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.