Genetics Genetics Research
CHROMOSOME 21 CBS 21q22.3 GENE VIEW CBS · 21q22.3 21q21 21q23 rs863223434 — ~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 rs863223434 Proline 427 → Leucine G / A · CBS · 21q22.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs863223434

Proline 427 → Leucine Gene: CBS — Cystathionine Beta-Synthase Chr 21:43058912 21q22.3 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies2

Sort by
Total G 0.999981A 0.000019GG 0.999962GA/AG 0.000038AA 0pop=210,978 ↬
European G 0.999978A 0.000022GG 0.999955GA/AG 0.000045AA 0pop=178,462

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.