Variant: rs113993991 

    present in Gene: SBDS
    present in Chromosome: 7
    Position on Chromosome: 66994286
    Alleles of this Variant: TA/AG

rs113993991 in SBDS gene and Shwachman syndrome PMID 15860664 2005 The Shwachman-Diamond SBDS protein localizes to the nucleolus.

PMID 15701631 2005 These data are consistent with absence of homozygosity for the common K62X truncation mutation in individuals with SDS, indicating that the SDS disease phenotype is a consequence of expression of hypomorphic SBDS alleles and that complete loss of SBDS function is likely to be lethal.

PMID 21695142 2011 Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome.

PMID 22934832 2012 Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome.

PMID 26081292 2015 Shwachman-Diamond syndrome (SDS) in a preterm neonate.

PMID 25844324 2015 Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach.

PMID 15342903 2004 Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome.

PMID 24388329 2014 Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.

PMID 12496757 2003 Mutations in SBDS are associated with Shwachman-Diamond syndrome.

PMID 22935661 2013 Shwachman-Diamond syndrome: diarrhea, no longer required?

PMID 29375851 2018 Association of isochromosome (7)(q10) in Shwachman-Diamond syndrome with the severity of cytopenia.

PMID 24629175 2014 Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome.

PMID 25729736 2015 Two cases of Shwachman-Diamond syndrome in adolescents confirmed by genetic analysis.

PMID 14749921 2004 Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.

PMID 29753700 2018 Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.