Variant (rsID / SNP)

rs74970217

rs74970217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARFGEF2. Location: chromosome 20, position 47,587,902. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ARFGEF2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:47587902
Cytoband: 20q13.13
HGVS: NM_006420.3(ARFGEF2):c.1425+11C>T
Allele change: Silent

Associated conditions / phenotypes

Periventricular heterotopia with microcephaly, autosomal recessive

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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