Variant: rs1276519904 

    present in Gene: H3-3A
    present in Chromosome: 1
    Position on Chromosome: 226071445
    Alleles of this Variant: A/G

rs1276519904 in H3-3A gene and Dysmorphic features PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 10556297 1999 A retroviral gene trap insertion into the histone 3.3A gene causes partial neonatal lethality, stunted growth, neuromuscular deficits and male sub-fertility in transgenic mice.

PMID 21782046 2011 The human histone H3 complement anno 2011.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 16472024 2009 Recognition and classification of histones using support vector machine.

PMID 26139371 2015 Critical Role of Histone Turnover in Neuronal Transcription and Plasticity.

PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.

PMID 23415232 2013 Regulation of transcription through acetylation of H3K122 on the lateral surface of the histone octamer.

PMID 17220215 2007 Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

PMID 9441765 1997 Localization of the human H3F3A histone gene to 1q41, outside of the normal histone gene clusters.

PMID 25348405 2015 UniProt: a hub for protein information.

rs1276519904 in H3-3A gene and Muscle hypotonia PMID 16472024 2009 Recognition and classification of histones using support vector machine.

PMID 10556297 1999 A retroviral gene trap insertion into the histone 3.3A gene causes partial neonatal lethality, stunted growth, neuromuscular deficits and male sub-fertility in transgenic mice.

PMID 23415232 2013 Regulation of transcription through acetylation of H3K122 on the lateral surface of the histone octamer.

PMID 21782046 2011 The human histone H3 complement anno 2011.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 26139371 2015 Critical Role of Histone Turnover in Neuronal Transcription and Plasticity.

PMID 17220215 2007 Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.

PMID 9441765 1997 Localization of the human H3F3A histone gene to 1q41, outside of the normal histone gene clusters.

rs1276519904 in H3-3A gene and Overgrowth PMID 26139371 2015 Critical Role of Histone Turnover in Neuronal Transcription and Plasticity.

PMID 23415232 2013 Regulation of transcription through acetylation of H3K122 on the lateral surface of the histone octamer.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.

PMID 10556297 1999 A retroviral gene trap insertion into the histone 3.3A gene causes partial neonatal lethality, stunted growth, neuromuscular deficits and male sub-fertility in transgenic mice.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 17220215 2007 Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

PMID 16472024 2009 Recognition and classification of histones using support vector machine.

PMID 9441765 1997 Localization of the human H3F3A histone gene to 1q41, outside of the normal histone gene clusters.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 21782046 2011 The human histone H3 complement anno 2011.