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SNP information rs13073139

RS13073139

Normal allele: GG

It is a frequent cause of profound biotinidase deficiency.

Polymorphism rs13073139 is related to topics like this:

Biotin dna

Biotin, also known as vitamin B7, vitamin H, or coenzyme R, is a water-soluble B-complex vitamin....

Research and publications:

  7509806   Human serum biotinidase. cDNA cloning, sequence, and characterization.

  9232193   Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.

  9375914   Profound biotinidase deficiency in two asymptomatic adults.

  9654207   Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

  10206677   Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.

  10400129   Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.

  18704161   Genetic variation in an individual human exome.

  20301497   Biotinidase Deficiency.

  20549359   High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.

  20556870   CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies

  21228398   Carrier testing for severe childhood recessive diseases by next-generation sequencing.

  21752405   [Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].

  23757202   Free the data: one laboratory's approach to knowledge-based classification of genomic variants and preparation for integration of genomic data into EMR.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

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