Variant (rsID / SNP)

rs138909076

rs138909076 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RELN. Location: chromosome 7, position 103,191,646. 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: 7:103191646
Cytoband: 7q22.1
HGVS: NM_005045.4(RELN):c.6170T>G (p.Leu2057Arg)
Allele change: Missense_L2057R

Associated conditions / phenotypes

Familial temporal lobe epilepsy 7|Norman-Roberts syndrome

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.