Genetics Genetics Research
CHROMOSOME 15 MTFMT 15q22.31 GENE VIEW MTFMT · 15q22.31 15q21 15q23 rs201431517 — ~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 rs201431517 Serine 209 → Leucine G / A · MTFMT · 15q22.31 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

rs201431517

Serine 209 → Leucine Gene: MTFMT — Mitochondrial Methionyl-TRNA Formyltransferase Chr 15:65021533 15q22.31 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies6

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Total G 0.999244A 0.000756GG 0.998491GA/AG 0.001505AA 0.000004pop=494,444 ↬
African G 0.99982A 0.00018GG 0.999641GA/AG 0.000359AA 0pop=44,546
African American G 0.99981A 0.00019GG 0.999627GA/AG 0.000373AA 0pop=42,914
European G 0.999118A 0.000882GG 0.998241GA/AG 0.001754AA 0.000005pop=399,172
Latin American 1 G 0.9997A 0.0003GG 0.999457GA/AG 0.000543AA 0pop=3,680
Other G 0.99947A 0.00053GG 0.998935GA/AG 0.001065AA 0pop=24,416

Studies0

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