Variant: rs104894415 

    present in Gene: GJB6
    present in Chromosome: 13
    Position on Chromosome: 20223450
    Alleles of this Variant: C/G;T

rs104894415 in GJB6 gene and DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) PMID 11017065 2000 Mutations in GJB6 cause hidrotic ectodermal dysplasia.

PMID 12419304 2002 Functional studies of human skin disease- and deafness-associated connexin 30 mutations.

PMID 27817781 2016 [A gene study of a family with hidrotic ectodermal dysplasia].

PMID 23926005 2013 [Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia].

PMID 24514865 2014 A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

PMID 15213106 2004 Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.

PMID 23981984 2013 Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia.

PMID 12788524 2003 A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.

PMID 15769851 2005 Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.

PMID 26551294 2016 Immune system disturbances in Clouston syndrome.

rs104894415 in GJB6 gene and Deafness, Autosomal Dominant 3B PMID 26551294 2016 Immune system disturbances in Clouston syndrome.

PMID 12788524 2003 A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.

PMID 23981984 2013 Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia.

PMID 23926005 2013 [Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia].

PMID 24514865 2014 A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

PMID 15213106 2004 Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.

PMID 27817781 2016 [A gene study of a family with hidrotic ectodermal dysplasia].

PMID 11017065 2000 Mutations in GJB6 cause hidrotic ectodermal dysplasia.

PMID 12419304 2002 Functional studies of human skin disease- and deafness-associated connexin 30 mutations.

PMID 15769851 2005 Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.

rs104894415 in GJB6 gene and Hidrotic Ectodermal Dysplasia PMID 27817781 2016 [A gene study of a family with hidrotic ectodermal dysplasia].

PMID 15769851 2005 Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.

PMID 12788524 2003 A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.

PMID 11874494 2002 A novel connexin 30 mutation in Clouston syndrome.

PMID 11017065 2000 Mutations in GJB6 cause hidrotic ectodermal dysplasia.

PMID 24514865 2014 A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

PMID 15213106 2004 Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.

PMID 12419304 2002 Functional studies of human skin disease- and deafness-associated connexin 30 mutations.

PMID 23926005 2013 [Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia].

PMID 20536673 2010 G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family.

PMID 23981984 2013 Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia.

PMID 23219093 2013 We identified a recurrent heterozygous mutation c.31G>C (p.Gly11Arg) in the GJB6 gene in the Lebanese-German family with Clouston syndrome.

PMID 26551294 2016 Immune system disturbances in Clouston syndrome.