Genetics Genetics Research
CHROMOSOME 5 DHFR 5q14.1 GENE VIEW DHFR · 5q14.1 5q13 5q15 rs387906619 — ~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 rs387906619 Leucine 80 → Phenylalanine G / A · DHFR · 5q14.1 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

rs387906619

Leucine 80 → Phenylalanine Gene: DHFR — Dihydrofolate Reductase Chr 5:80649393 5q14.1 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies3

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Total G 0.999937A 0.000063GG 0.999874GA/AG 0.000126AA 0pop=190,000 ↬
European G 0.999932A 0.000068GG 0.999864GA/AG 0.000136AA 0pop=161,258
Other G 0.9996A 0.0004GG 0.99912GA/AG 0.00088AA 0pop=2,272

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