Genetics Genetics Research
CHROMOSOME 2 ERBB4 2q34 GENE VIEW ERBB4 · 2q34 2q33 2q35 rs397514262 — ~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 rs397514262 Arginine 927 → Leucine C / A · ERBB4 · 2q34 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A C Cytosine — reference allele A Adenine — variant allele genetics.jdge.cc

rs397514262

Arginine 927 → Leucine Gene: ERBB4 — Erb-B2 Receptor Tyrosine Kinase 4 Chr 2:211424241 2q34 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies2

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Total C 0.999971T 0.000029CC 0.999941CT/TC 0.000059TT 0pop=204,132 ↬
European C 0.999965T 0.000035CC 0.99993CT/TC 0.00007TT 0pop=171,270

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