Variant (rsID / SNP)

rs200007424

rs200007424 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RELN. Location: chromosome 7, position 103,276,809. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RELNUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:103276809
Cytoband: 7q22.1
HGVS: NM_005045.4(RELN):c.2176T>A (p.Phe726Ile)
Allele change: Missense_F726I

Associated conditions / phenotypes

Norman-Roberts syndrome|Familial temporal lobe epilepsy 7

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.