Gene entry
ARFGEF2
ARF guanine nucleotide exchange factor 2
- Chromosome
- 20
- Cytoband
- 20q13.13
- Variants (rsID)
- 23
ARFGEF2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20q13.13). Its official name is “ARF guanine nucleotide exchange factor 2”. The reference table lists 23 variants (rsID) for this gene.
Clinically classified variants
13 reference-table entries with clinical significance.
- rs116550473Benignsingle nucleotide variant
- rs74970217Benignsingle nucleotide variantPeriventricular heterotopia with microcephaly, autosomal recessive
- rs117131028Conflicting interpretationssingle nucleotide variantPeriventricular heterotopia with microcephaly, autosomal recessive
- rs147534008Conflicting interpretationssingle nucleotide variantPeriventricular heterotopia with microcephaly, autosomal recessive
- rs149172723Conflicting interpretationssingle nucleotide variantPeriventricular heterotopia with microcephaly, autosomal recessive
- rs187176143Conflicting interpretationssingle nucleotide variantPeriventricular heterotopia with microcephaly, autosomal recessive
- rs200945599Conflicting interpretationssingle nucleotide variantPeriventricular heterotopia with microcephaly, autosomal recessive
- rs538199862Conflicting interpretationssingle nucleotide variant
- rs61748373Conflicting interpretationssingle nucleotide variantPeriventricular heterotopia with microcephaly, autosomal recessive
- rs73113975Conflicting interpretationssingle nucleotide variantPeriventricular heterotopia with microcephaly, autosomal recessive
- rs144227832Uncertain significancesingle nucleotide variant
- rs149471454Uncertain significancesingle nucleotide variantSee cases
- rs183852730Uncertain significancesingle nucleotide variant
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.