Genetics Genetics Research
CHROMOSOME 21 CBS 21q22.3 GENE VIEW CBS · 21q22.3 21q21 21q23 rs774926464 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs774926464 Glycine 351 → Arginine C / G · CBS · 21q22.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G C Cytosine — reference allele G Guanine — variant allele genetics.jdge.cc

rs774926464

Glycine 351 → Arginine Gene: CBS — Cystathionine Beta-Synthase Chr 21:43060535 21q22.3 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies2

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Global C 0.999991G 0.000009pop=113,330 ↬
Europe C 0.99999G 0.00001pop=67,882

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