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Gene Variant Report issued

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Lifestyle Genomics Research Centre Ltd.<br />

Plymouth Science Park, 1 Davy Road, Derriford, Plymouth, PL6 8BX , UNITED KINGDOM<br />

contact us<br />

SAMPLE PROCESSED BY:<br />

METHOD:<br />

DATA CHECKED FOR ACCURACY BY:<br />

Genome Centre at BARTS and The London School of Medicine and Dentistry<br />

Fluidigm TaqMan probe-based SNP genotyping / Illumina MiSeq, Next <strong>Gene</strong>ration<br />

sequencing<br />

Genome Centre at BARTS and The London School of Medicine and Dentistry<br />

NOTES:<br />

genotype has no risk alleles<br />

genotype has one risk allele<br />

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genotype has two risk allels<br />

either allele can be a risk or be<br />

beneficial<br />

Ctr+F to activate Search Engine: Look up genes, rsids, pathways / traits<br />

SNP RSID INTERPRET ☞ PARENT GENE & VARIANT ⚛ CATEGORY ☤ / PATHWAY ⥹ RISK ALLELES !! cp00035774<br />

rs4920037<br />

rs234706<br />

It is responsible for using vitamin B6<br />

to convert amino acids called<br />

homocysteine and serine to a<br />

molecule called cytathionine.<br />

Another enzyme converts<br />

cystathionine to cysteine, which is<br />

used to build proteins or is broken<br />

down and excreted in urine.<br />

AA=Increased responsiveness to<br />

homocysteine-lowering effects of<br />

folic acid. Limits homocysteine into<br />

downstream path. People with CBS<br />

mutations will need to be careful<br />

with sulphur containing<br />

supplements. Increased risk for<br />

ammonia detoxification issues.<br />

CBS Trans-sulfuration AA GA<br />

CBS C699T Trans-sulfuration AA GA<br />

rs2273684 rs2273684 GSS Trans-sulfuration TT GG<br />

rs6088659 rs6088659 GSS A5997G Trans-sulfuration TT CC

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