Genetics Genetics Research
CHROMOSOME 10 CUBN 10p13 GENE VIEW CUBN · 10p13 10p14 10p12 rs1801239 — ~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 rs1801239 Isoleucine 2984 → Phenylalanine T / A · CUBN · 10p13 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A T Thymine — reference allele A Adenine — variant allele genetics.jdge.cc

rs1801239

Isoleucine 2984 → Phenylalanine Gene: CUBN — Cubilin Chr 10:16877053 10p13 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.905312C 0.094688TT 0.820313TC/CT 0.169999CC 0.009688pop=750,394 ↬
African T 0.96887C 0.03113TT 0.938738TC/CT 0.060259CC 0.001003pop=69,766
African American T 0.96833C 0.03167TT 0.937698TC/CT 0.061263CC 0.001039pop=67,382
African Others T 0.9841C 0.0159TT 0.968121TC/CT 0.031879CC 0pop=2,384
Asian T 0.99391C 0.00609TT 0.988187TC/CT 0.011448CC 0.000365pop=16,422
East Asian T 0.99887C 0.00113TT 0.997733TC/CT 0.002267CC 0pop=12,352
European T 0.895125C 0.104875TT 0.801219TC/CT 0.187812CC 0.010969pop=589,132
Latin American 1 T 0.90907C 0.09093TT 0.82596TC/CT 0.166212CC 0.007828pop=10,986
Latin American 2 T 0.91638C 0.08362TT 0.840737TC/CT 0.151285CC 0.007978pop=20,306
Other T 0.91127C 0.08873TT 0.831654TC/CT 0.15924CC 0.009106pop=35,142
Other Asian T 0.9789C 0.0211TT 0.959214TC/CT 0.039312CC 0.001474pop=4,070
South Asian T 0.8633C 0.1367TT 0.745602TC/CT 0.235417CC 0.018981pop=8,640

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