Genetics Genetics Research
CHROMOSOME 21 CBS 21q22.3 GENE VIEW CBS · 21q22.3 21q21 21q23 rs863223433 — ~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 rs863223433 Tryptophan 408 → Stop C / T · CBS · 21q22.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ T HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ T 5′ 3′ T C Cytosine — reference allele T Thymine — variant allele genetics.jdge.cc

rs863223433

Tryptophan 408 → Stop Gene: CBS — Cystathionine Beta-Synthase Chr 21:43059226 21q22.3 Stop Gained
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies2

Sort by
Total C 0.999995T 0.000005CC 0.999989CT/TC 0.000011TT 0pop=184,636 ↬
European C 0.999994T 0.000006CC 0.999987CT/TC 0.000013TT 0pop=156,958

Studies0

Unread Studies0 ▼

No new studies.

Curated Studies0 ▼

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

No curated studies yet.

Unused Studies0 ▼

No unused studies.