Variant: rs113993962 

    present in Gene: BLM
    present in Chromosome: 15
    Position on Chromosome: 90766923
    Alleles of this Variant: ATCTGA/TAGATTC

rs113993962 in BLM gene and Bloom Syndrome PMID 9758720 1998 Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population.

PMID 9837821 1998 The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.

PMID 23225144 2013 Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.

PMID 17407155 2007 Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.

PMID 7585968 1995 The Bloom's syndrome gene product is homologous to RecQ helicases.

PMID 10521302 1999 Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normal.

rs113993962 in BLM gene and Neoplastic Syndromes, Hereditary PMID 24096176 2013 A common nonsense mutation of the BLM gene and prostate cancer risk and survival.

PMID 21815139 2012 High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia.

PMID 9482582 1998 A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene.

PMID 7585968 1995 The Bloom's syndrome gene product is homologous to RecQ helicases.

PMID 12702560 2003 Heterozygosity for the BLM(Ash) mutation and cancer risk.

PMID 9837821 1998 The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.

PMID 17407155 2007 Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.

PMID 12242432 2002 BLM heterozygosity and the risk of colorectal cancer.

PMID 23225144 2013 Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.

PMID 10090915 1999 Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews.

PMID 15726604 2005 Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development.