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Variant (rsID / SNP)

rs147534008

ARFGEF2

rs147534008 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARFGEF2. Location: chromosome 20, position 47,589,800. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ARFGEF2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:47589800
Cytoband
20q13.13
HGVS
NM_006420.3(ARFGEF2):c.1644G>A (p.Glu548=)
Allele change
Synonymous_E548E

Associated conditions / phenotypes

Periventricular heterotopia with microcephaly, autosomal recessive

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.