In the gene SLC37A4, the data suggest that the homozygous frameshift mutation 11-118898435-AC-A, which results in a premature stop gain, has an allelic frequency of 100%. Please see the link provided here:
According to the medical literature, homozygous stop gain mutations in this particular gene would result in a rare metabolic disorder described in the link provided below:
After a quick look through other exome databanks, such as in the NHLBI Exome Sequencing Project Exome Variant Server and the 1000 Genomes browser, I was unable to locate this particular variant.
Does an allelic frequency this high suggest some kind of artifact, such as misalignment, and would this affect our overall confidence in the sequencing data spanning the rest of this allele?
In the gene SLC37A4, the data suggest that the homozygous frameshift mutation 11-118898435-AC-A, which results in a premature stop gain, has an allelic frequency of 100%. Please see the link provided here:
http://exac.broadinstitute.org/variant/11-118898435-AC-A
According to the medical literature, homozygous stop gain mutations in this particular gene would result in a rare metabolic disorder described in the link provided below:
https://www.labcorp.com/sites/default/files/glycogen%20storage%20disease%20type%20ib.pdf
After a quick look through other exome databanks, such as in the NHLBI Exome Sequencing Project Exome Variant Server and the 1000 Genomes browser, I was unable to locate this particular variant.
Does an allelic frequency this high suggest some kind of artifact, such as misalignment, and would this affect our overall confidence in the sequencing data spanning the rest of this allele?