Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs73113975

ARFGEF2

rs73113975 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARFGEF2. Location: chromosome 20, position 47,558,417. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ARFGEF2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:47558417
Cytoband
20q13.13
HGVS
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser)
Allele change
Missense_P57S

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.