Variant: rs1197561990 

    present in Gene: NEB
    present in Chromosome: 2
    Position on Chromosome: 151664609
    Alleles of this Variant: C/G;T

rs1197561990 in NEB gene and Dysmorphic features PMID 12207937 2002 Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

PMID 10051637 1999 Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

PMID 15221447 2004 Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

PMID 15266303 2004 Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.

PMID 16917880 2006 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.

PMID 19805734 2009 Core-rod myopathy caused by mutations in the nebulin gene.

PMID 15336686 2004 Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.

PMID 2838409 1988 Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2.

PMID 21724397 2011 Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

PMID 17525139 2007 Distal myopathy caused by homozygous missense mutations in the nebulin gene.

PMID 27933661 2017 Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.

rs1197561990 in NEB gene and Muscle hypotonia PMID 10051637 1999 Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

PMID 15336686 2004 Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.

PMID 12207937 2002 Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

PMID 16917880 2006 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

PMID 15266303 2004 Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.

PMID 15221447 2004 Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

PMID 17525139 2007 Distal myopathy caused by homozygous missense mutations in the nebulin gene.

PMID 21724397 2011 Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

PMID 2838409 1988 Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2.

PMID 19805734 2009 Core-rod myopathy caused by mutations in the nebulin gene.

PMID 27933661 2017 Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.

PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.