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SNP information rs12478318

RS12478318

Normal allele: TT

SCN9A gene mutation associated with risk of idiopathic small fibre neuropathy.

Polymorphism rs12478318 is related to topics like this:

Hereditary polyneuropathy

The peripheral nervous system is affected by a diverse range of diseases known as hereditary...

Research and publications:

  21698661   Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy.

  21939494   Two novel SCN9A gene heterozygous mutations may cause partial deletion of pain perception.

  23292638   Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgia.

  23450472   [Association between mutations of SCN9A gene and pain related to Parkinsonism].

  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.

Melanoma genes

The incidence of malignant melanoma (MM) is rising sharply, making it one of the most aggressive...

Genetic testing for cancer

Medical tests are employed to detect specific changes or mutations in an individual's genes and...

Colorectal cancer genes

One of the prevalent cancer syndromes that can be inherited is colon cancer. Chromosome 2 contains...

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