Genome Analysis Part:2

The disease our patient will present with the genome testing, with the disease ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD and with the variant dbSNP:rs77931234 (as discussed in previous posts) in the gene ACADM.

In the NCBI browser the variant of interest can be seen here at position 75761161 in GRCh38:

here a larger view can be seen of the exon the variant is in:

The location for GRCh37 and GRCh38 can be seen here from the dbsnp entries:

The VCF entry for a homozygous mutation would look as follows:

#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT CB00001
1 75761161 rs77931234 A G 25 PASS NS=1;DP=1;5;DB GT:GQ:DP 1/1:52:35