Genetics Genetics Research
CHROMOSOME 10 ABCC2 10q24.2 GENE VIEW ABCC2 · 10q24.2 10q23 10q25 rs146405172 — ~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 rs146405172 G / A · ABCC2 · 10q24.2 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

rs146405172

Gene: ABCC2 — ATP Binding Cassette Subfamily C Member 2 Chr 10:99811603 10q24.2 Splice Donor Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies3

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Total G 0.999881A 0.000119GG 0.999763GA/AG 0.000237AA 0pop=463,948 ↬
European G 0.999864A 0.000136GG 0.999728GA/AG 0.000272AA 0pop=374,732
Other G 0.99984A 0.00016GG 0.999685GA/AG 0.000315AA 0pop=25,404

Studies1

Unread Studies1 ▼
1

Validierung neuer Kandidatengene bei familiärem Brustkrebs in BRCA1/2-negativen Familien liefert Hinweis auf digene Vererbung

Study ↗ PDF ↗
PID
Identified as a Splice variant (G>A) in Familie 2 during exome sequencing of high-risk breast cancer families. Allele count A=2/G=8598. Suggests potential digenic inheritance in BRCA1/2-negative cases.

2021 · Fritzemeyer JV

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.