Genetics Genetics Research
CHROMOSOME 2 ERBB4 2q34 GENE VIEW ERBB4 · 2q34 2q33 2q35 rs397514263 — ~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 rs397514263 Arginine 1259 → Tryptophan G / A · ERBB4 · 2q34 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

rs397514263

Arginine 1259 → Tryptophan Gene: ERBB4 — Erb-B2 Receptor Tyrosine Kinase 4 Chr 2:211383719 2q34 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies4

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Total G 0.999951A 0.000049GG 0.999903GA/AG 0.000097AA 0pop=225,678 ↬
Asian G 0.9998A 0.0002GG 0.999682GA/AG 0.000318AA 0pop=6,284
European G 0.999947A 0.000053GG 0.999894GA/AG 0.000106AA 0pop=188,316
Other Asian G 0.9991A 0.0009GG 0.998158GA/AG 0.001842AA 0pop=1,086

Studies0

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