Genetic locus:

According to OMIM database, use standard nomenclature: <chromosome><arm><region><G-band.sub-band> with no spaces. If there is a range of sub-bands, only enter the first sub-band.

Example: a gene located on chromosome 7, p arm, Region 3, Band 1 and sub-band 2= 7p31.2 

Only enter 7p31.2

Upload a screenshot from NCBI BLAST showing a nucleotide alignment of the mutant cDNA sequence used in your BLAST search and the corresponding reference gene sequence; include the translated polypeptide sequence of both the variant allele and reference. Just show the region (~500 bp) containing the putative pathogenic (disease causing) mutation – NOT the entire alignment.

Annotate this screen shot to highlight:

i) the location of the variant

ii) the effect of the variant on the protein sequence of the variant allele

Identified gene from sequence provided:

Please report the official gene abbreviation as per company policy