Genetics Genetics Research
CHROMOSOME 10 ABCC2 10q24.2 GENE VIEW ABCC2 · 10q24.2 10q23 10q25 rs72558199 — ~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 rs72558199 Arginine 1066 → Stop C / T · ABCC2 · 10q24.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ T HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ T 5′ 3′ T C Cytosine — reference allele T Thymine — variant allele genetics.jdge.cc

rs72558199

Arginine 1066 → Stop Gene: ABCC2 — ATP Binding Cassette Subfamily C Member 2 Chr 10:99832069 10q24.2 Stop Gained
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies7

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Total C 0.999406T 0.000594CC 0.998813CT/TC 0.001187TT 0pop=562,694 ↬
African C 0.99981T 0.00019CC 0.999615CT/TC 0.000385TT 0pop=46,696
African American C 0.9998T 0.0002CC 0.9996CT/TC 0.0004TT 0pop=45,030
European C 0.999354T 0.000646CC 0.998707CT/TC 0.001293TT 0pop=453,342
Latin American 1 C 0.9993T 0.0007CC 0.998611CT/TC 0.001389TT 0pop=5,760
Latin American 2 C 0.99981T 0.00019CC 0.999629CT/TC 0.000371TT 0pop=10,778
Other C 0.99909T 0.00091CC 0.998175CT/TC 0.001825TT 0pop=28,486

Studies1

Unread Studies1 ▼
1

Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2‐negatively tested breast cancer patients

Study ↗ PDF ↗
Hereditary breast cancer comprises a minor but clinically meaningful breast cancer ( BC ) subgroup. Mutations in the major BC ‐susceptibility genes are important prognostic and …

2016 · F Lhota, P Zemankova, P Kleiblova…

Curated Studies0 ▼

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

No curated studies yet.

Unused Studies0 ▼

No unused studies.